Variant summary: The NPHS1 c.2335-1G>A variant involves the alteration of a conserved intronic nucleotide and 4/5 splice prediction tools predict a significant impact on normal splicing and ESE finder predicts alterations to ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 7/121044 control chromosomes at a frequency of 0.0000578, which does not exceed the estimated maximal expected allele frequency of a pathogenic NPHS1 variant (0.0033541). Multiple publications have cited the variant in homozygous and compound heterozygous affected individuals. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic.
ClinVar Genomic variation as it relates to human health
NM_004646.4(NPHS1):c.2335-1G>A
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(16)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
16
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_004646.4(NPHS1):c.2335-1G>A
Variation ID: 188734 Accession: VCV000188734.66
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 19q13.12 19: 35842551 (GRCh38) [ NCBI UCSC ] 19: 36333453 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 29, 2015 Dec 22, 2024 Oct 22, 2024 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_004646.4:c.2335-1G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice acceptor NC_000019.10:g.35842551C>T NC_000019.9:g.36333453C>T NG_013356.2:g.31737G>A LRG_693:g.31737G>A LRG_693t1:c.2335-1G>A - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000019.10:35842550:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Exome Aggregation Consortium (ExAC) 0.00006
The Genome Aggregation Database (gnomAD) 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00009
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| NPHS1 | - | - |
GRCh38 GRCh37 |
1677 | 1862 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (10) |
criteria provided, multiple submitters, no conflicts
|
Mar 19, 2024 | RCV000169038.27 | |
| Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
|
Oct 22, 2024 | RCV000599036.41 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Jun 05, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Finnish congenital nephrotic syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698502.1
First in ClinVar: Mar 29, 2015 Last updated: Mar 29, 2015 |
Comment:
Variant summary: The NPHS1 c.2335-1G>A variant involves the alteration of a conserved intronic nucleotide and 4/5 splice prediction tools predict a significant impact on normal … (more)
Variant summary: The NPHS1 c.2335-1G>A variant involves the alteration of a conserved intronic nucleotide and 4/5 splice prediction tools predict a significant impact on normal splicing and ESE finder predicts alterations to ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 7/121044 control chromosomes at a frequency of 0.0000578, which does not exceed the estimated maximal expected allele frequency of a pathogenic NPHS1 variant (0.0033541). Multiple publications have cited the variant in homozygous and compound heterozygous affected individuals. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic. (less)
|
|
|
Pathogenic
(Jun 30, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Finnish congenital nephrotic syndrome
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV001752809.1
First in ClinVar: Jul 18, 2021 Last updated: Jul 18, 2021
Comment:
This variant has been detected in individual(s) who were sent for testing of Renasight - kidney gene panel.
|
|
|
|
Pathogenic
(Dec 01, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Athena Diagnostics
Accession: SCV001879943.1
First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
Comment:
This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. The frequency of this variant in the general population … (more)
This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. (less)
|
|
|
Pathogenic
(Mar 17, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV002051648.2
First in ClinVar: Jan 08, 2022 Last updated: Feb 11, 2022 |
Comment:
PVS1, PM2, PM3
|
|
|
Pathogenic
(Oct 19, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Finnish congenital nephrotic syndrome
Affected status: yes
Allele origin:
unknown
|
Vasylyeva lab, Texas Tech University Health Sciences Center
Accession: SCV004123139.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
|
|
|
Pathogenic
(Dec 10, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Finnish congenital nephrotic syndrome
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002018361.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
|
|
Pathogenic
(Mar 19, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Finnish congenital nephrotic syndrome
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004191370.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
|
|
|
Pathogenic
(Dec 21, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Finnish congenital nephrotic syndrome
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV001427142.3
First in ClinVar: Aug 13, 2020 Last updated: Jul 23, 2024 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with nephrotic syndrome, type 1 (MIM#256300). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0211 - Canonical splice site variant without proven consequence on splicing (no functional evidence available). (SP) 0252 - This variant is homozygous. (I) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (v2 & v3: 35 heterozygotes, 0 homozygotes). (SP) 0505 - Abnormal splicing is predicted by in silico tools and affected nucleotide is highly conserved. (SP) 0801 - This variant has very strong previous evidence of pathogenicity in unrelated individuals. It has been classified as pathogenic by multiple diagnostic laboratories in ClinVar and reported in individuals with congenital nephrotic syndrome (PMID: 33089377). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
|
|
|
Pathogenic
(Oct 22, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000709982.6
First in ClinVar: Apr 02, 2018 Last updated: Nov 03, 2024 |
Comment:
Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; … (more)
Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25533962, 31980526, 29676031, 30804562, 11317351, 24902943, 23949594, 9915943, 28117080, 20507940, 31308072, 30586318, 34758253, 32939031, 11854170) (less)
|
|
|
Pathogenic
(Sep 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001151789.28
First in ClinVar: Feb 03, 2020 Last updated: Dec 22, 2024 |
Comment:
NPHS1: PVS1, PM2, PM3
Number of individuals with the variant: 2
|
|
|
Pathogenic
(Oct 19, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Finnish congenital nephrotic syndrome
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV001194130.4
First in ClinVar: Apr 06, 2020 Last updated: Dec 24, 2022 |
Comment:
NM_004646.3(NPHS1):c.2335-1G>A is a canonical splice variant classified as pathogenic in the context of nephrotic syndrome, NPHS1-related. c.2335-1G>A has been observed in cases with relevant disease … (more)
NM_004646.3(NPHS1):c.2335-1G>A is a canonical splice variant classified as pathogenic in the context of nephrotic syndrome, NPHS1-related. c.2335-1G>A has been observed in cases with relevant disease (PMID: 11854170, 20507940, 23949594, 28117080). Functional assessments of this variant are not available in the literature. c.2335-1G>A has been observed in population frequency databases (gnomAD: NFE 0.02%). In summary, NM_004646.3(NPHS1):c.2335-1G>A is a canonical splice variant in a gene where loss of function is a known mechanism of disease, is predicted to disrupt protein function, and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
|
|
|
Pathogenic
(Jan 29, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001217054.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024 |
Comment:
This sequence change affects an acceptor splice site in intron 17 of the NPHS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt … (more)
This sequence change affects an acceptor splice site in intron 17 of the NPHS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). This variant is present in population databases (rs150038620, gnomAD 0.02%). Disruption of this splice site has been observed in individuals with congenital nephrotic syndrome (PMID: 9915943, 11854170, 24902943, 28117080). ClinVar contains an entry for this variant (Variation ID: 188734). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Jun 23, 2016)
|
no assertion criteria provided
Method: research
|
Finnish congenital nephrotic syndrome
Affected status: unknown
Allele origin:
germline
|
Division of Human Genetics, Children's Hospital of Philadelphia
Study: CSER-PediSeq
Accession: SCV000536792.1 First in ClinVar: Mar 29, 2015 Last updated: Mar 29, 2015 |
|
|
|
Pathogenic
(Sep 16, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Finnish congenital nephrotic syndrome
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001460530.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Finnish congenital nephrotic syndrome
Affected status: yes
Allele origin:
germline
|
Genomics England Pilot Project, Genomics England
Accession: SCV001760447.1
First in ClinVar: Jul 27, 2021 Last updated: Jul 27, 2021 |
|
|
|
Pathogenic
(Sep 16, 2018)
|
no assertion criteria provided
Method: research
|
not provided
Affected status: yes
Allele origin:
germline
|
Gharavi Laboratory, Columbia University
Accession: SCV000809261.1
First in ClinVar: Apr 02, 2018 Last updated: Apr 02, 2018 |
|
|
| click to load more click to collapse | |||||
Comment:
Comment:
This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic.
Comment:
PVS1, PM2, PM3
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with nephrotic syndrome, type 1 (MIM#256300). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0211 - Canonical splice site variant without proven consequence on splicing (no functional evidence available). (SP) 0252 - This variant is homozygous. (I) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (v2 & v3: 35 heterozygotes, 0 homozygotes). (SP) 0505 - Abnormal splicing is predicted by in silico tools and affected nucleotide is highly conserved. (SP) 0801 - This variant has very strong previous evidence of pathogenicity in unrelated individuals. It has been classified as pathogenic by multiple diagnostic laboratories in ClinVar and reported in individuals with congenital nephrotic syndrome (PMID: 33089377). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Comment:
Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25533962, 31980526, 29676031, 30804562, 11317351, 24902943, 23949594, 9915943, 28117080, 20507940, 31308072, 30586318, 34758253, 32939031, 11854170)
Comment:
NPHS1: PVS1, PM2, PM3
Comment:
NM_004646.3(NPHS1):c.2335-1G>A is a canonical splice variant classified as pathogenic in the context of nephrotic syndrome, NPHS1-related. c.2335-1G>A has been observed in cases with relevant disease (PMID: 11854170, 20507940, 23949594, 28117080). Functional assessments of this variant are not available in the literature. c.2335-1G>A has been observed in population frequency databases (gnomAD: NFE 0.02%). In summary, NM_004646.3(NPHS1):c.2335-1G>A is a canonical splice variant in a gene where loss of function is a known mechanism of disease, is predicted to disrupt protein function, and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Comment:
This sequence change affects an acceptor splice site in intron 17 of the NPHS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). This variant is present in population databases (rs150038620, gnomAD 0.02%). Disruption of this splice site has been observed in individuals with congenital nephrotic syndrome (PMID: 9915943, 11854170, 24902943, 28117080). ClinVar contains an entry for this variant (Variation ID: 188734). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant summary: The NPHS1 c.2335-1G>A variant involves the alteration of a conserved intronic nucleotide and 4/5 splice prediction tools predict a significant impact on normal splicing and ESE finder predicts alterations to ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 7/121044 control chromosomes at a frequency of 0.0000578, which does not exceed the estimated maximal expected allele frequency of a pathogenic NPHS1 variant (0.0033541). Multiple publications have cited the variant in homozygous and compound heterozygous affected individuals. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic.
Comment:
This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic.
Comment:
PVS1, PM2, PM3
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with nephrotic syndrome, type 1 (MIM#256300). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0211 - Canonical splice site variant without proven consequence on splicing (no functional evidence available). (SP) 0252 - This variant is homozygous. (I) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (v2 & v3: 35 heterozygotes, 0 homozygotes). (SP) 0505 - Abnormal splicing is predicted by in silico tools and affected nucleotide is highly conserved. (SP) 0801 - This variant has very strong previous evidence of pathogenicity in unrelated individuals. It has been classified as pathogenic by multiple diagnostic laboratories in ClinVar and reported in individuals with congenital nephrotic syndrome (PMID: 33089377). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Comment:
Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25533962, 31980526, 29676031, 30804562, 11317351, 24902943, 23949594, 9915943, 28117080, 20507940, 31308072, 30586318, 34758253, 32939031, 11854170)
Comment:
NPHS1: PVS1, PM2, PM3
Comment:
NM_004646.3(NPHS1):c.2335-1G>A is a canonical splice variant classified as pathogenic in the context of nephrotic syndrome, NPHS1-related. c.2335-1G>A has been observed in cases with relevant disease (PMID: 11854170, 20507940, 23949594, 28117080). Functional assessments of this variant are not available in the literature. c.2335-1G>A has been observed in population frequency databases (gnomAD: NFE 0.02%). In summary, NM_004646.3(NPHS1):c.2335-1G>A is a canonical splice variant in a gene where loss of function is a known mechanism of disease, is predicted to disrupt protein function, and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Comment:
This sequence change affects an acceptor splice site in intron 17 of the NPHS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). This variant is present in population databases (rs150038620, gnomAD 0.02%). Disruption of this splice site has been observed in individuals with congenital nephrotic syndrome (PMID: 9915943, 11854170, 24902943, 28117080). ClinVar contains an entry for this variant (Variation ID: 188734). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Thromboprophylaxis in congenital nephrotic syndrome: 15-year experience from a national cohort. | Dobbie LJ | Pediatric nephrology (Berlin, Germany) | 2021 | PMID: 33089377 |
| Treatment of recurrent focal segmental glomerulosclerosis post-kidney transplantation in Australian and New Zealand children: A retrospective cohort study. | Francis A | Pediatric transplantation | 2018 | PMID: 29676031 |
| Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. | Bierzynska A | Kidney international | 2017 | PMID: 28117080 |
| Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. | Kari JA | Pediatric nephrology (Berlin, Germany) | 2014 | PMID: 24902943 |
| Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. | Wong W | Pediatric nephrology (Berlin, Germany) | 2013 | PMID: 23949594 |
| Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. | Machuca E | Journal of the American Society of Nephrology : JASN | 2010 | PMID: 20507940 |
| Splicing in action: assessing disease causing sequence changes. | Baralle D | Journal of medical genetics | 2005 | PMID: 16199547 |
| Nephrin TRAP mice lack slit diaphragms and show fibrotic glomeruli and cystic tubular lesions. | Rantanen M | Journal of the American Society of Nephrology : JASN | 2002 | PMID: 12039988 |
| Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. | Koziell A | Human molecular genetics | 2002 | PMID: 11854170 |
| Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. | Beltcheva O | Human mutation | 2001 | PMID: 11317351 |
| Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. | Lenkkeri U | American journal of human genetics | 1999 | PMID: 9915943 |
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Text-mined citations for rs150038620 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Dec 22, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.