VCV000236068.4 - ClinVar

NM_000350.2(ABCA4):c.[1A>G;6089G>A]

Germline

Classification

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.

(1)

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

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This haplotype includes the following variants

NM_000350.2(ABCA4):c.[1A>G;6089G>A]

Other names: -
Functional consequence: -
Links: ClinGen: CA645372400

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
Gene	OMIM	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.
ABCA4		-	-	GRCh38 GRCh37	3759	4113

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.
Stargardt disease	Pathogenic (1)	no assertion criteria provided	Jun 23, 2019	RCV001002805.3

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 23, 2019)	no assertion criteria provided Method: research	Stargardt disease Affected status: yes Allele origin: inherited	Sharon lab, Hadassah-Hebrew University Medical Center Accession: SCV001160817.2 First in ClinVar: Feb 16, 2020 Last updated: Sep 03, 2023

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.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.	Maggi J	International journal of molecular sciences	2021	PMID: 33546218
Highly Variable Disease Courses in Siblings with Stargardt Disease.	Valkenburg D	Ophthalmology	2019	PMID: 31522899
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.	Jespersgaard C	Scientific reports	2019	PMID: 30718709
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.	Bauwens M	Genetics in medicine : official journal of the American College of Medical Genetics	2019	PMID: 30670881
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.	Fujinami K	The British journal of ophthalmology	2019	PMID: 29925512
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.	Fujinami K	The British journal of ophthalmology	2019	PMID: 29925512
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.	Schulz HL	Investigative ophthalmology & visual science	2017	PMID: 28118664
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.	Schulz HL	Investigative ophthalmology & visual science	2017	PMID: 28118664
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.	Cornelis SS	Human mutation	2017	PMID: 28044389
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.	Duncker T	Ophthalmology	2015	PMID: 25283059
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.	Bertelsen M	Investigative ophthalmology & visual science	2014	PMID: 24713488
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.	Eisenberger T	PloS one	2013	PMID: 24265693
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.	Eisenberger T	PloS one	2013	PMID: 24265693
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.	Fujinami K	American journal of ophthalmology	2013	PMID: 23953153
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.	Fujinami K	American journal of ophthalmology	2013	PMID: 23499370
Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.	Downes SM	Archives of ophthalmology (Chicago, Ill. : 1960)	2012	PMID: 23143460
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.	Duno M	Ophthalmic genetics	2012	PMID: 22229821
Peripapillary atrophy in Stargardt disease.	Hwang JC	Retina (Philadelphia, Pa.)	2009	PMID: 18854780
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.	Briggs CE	Investigative ophthalmology & visual science	2001	PMID: 11527935
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).	Yatsenko AN	Human genetics	2001	PMID: 11379881
An analysis of allelic variation in the ABCA4 gene.	Webster AR	Investigative ophthalmology & visual science	2001	PMID: 11328725
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.	Lewis RA	American journal of human genetics	1999	PMID: 9973280
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCA4	-	-	-	-
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Text-mined citations for this variant ...

Record last updated Nov 19, 2024

ClinVar Genomic variation as it relates to human health

NM_000350.2(ABCA4):c.[1A>G;6089G>A]

Variant Details

NM_000350.2(ABCA4):c.[1A>G;6089G>A]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...