NM_014425.5(INVS):c.1595T>C (p.Leu532Ser) AND Infantile nephronophthisis

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 2, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001330519.2

Allele description [Variation Report for NM_014425.5(INVS):c.1595T>C (p.Leu532Ser)]

NM_014425.5(INVS):c.1595T>C (p.Leu532Ser)

Gene:

INVS:inversin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.1

Genomic location:

Preferred name:

NM_014425.5(INVS):c.1595T>C (p.Leu532Ser)

HGVS:

NC_000009.12:g.100272887T>C
NG_008316.1:g.178659T>C
NM_001318381.2:c.1307T>C
NM_001318382.2:c.617T>C
NM_014425.5:c.1595T>CMANE SELECT
NP_001305310.1:p.Leu436Ser
NP_001305311.1:p.Leu206Ser
NP_055240.2:p.Leu532Ser
NC_000009.11:g.103035169T>C
NM_014425.3:c.1595T>C
NR_134606.2:n.1793T>C

Protein change:

L206S

Links:

dbSNP: rs1446860684

NCBI 1000 Genomes Browser:

rs1446860684

Molecular consequence:

NM_001318381.2:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001318382.2:c.617T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014425.5:c.1595T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_134606.2:n.1793T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Infantile nephronophthisis (NPHP2)
Synonyms:: Nephronophthisis 2; Nephronophthisis 2, infantile
Identifiers:: MONDO: MONDO:0011190; MedGen: C1865872; Orphanet: 655; OMIM: 602088

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001522220	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 1, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002798237	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 2, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001522220

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 1, 2019)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002798237

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 2, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Baylor Genetics, SCV001522220.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002798237.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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