ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) (rs58331765)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000314132 SCV000359436 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364229 SCV000359437 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392935 SCV000359438 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308729 SCV000359439 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000085506 SCV000701679 likely pathogenic not provided 2016-10-19 criteria provided, single submitter clinical testing
Invitae RCV000085506 SCV001102458 pathogenic not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 931 of the ABCA4 protein (p.Val931Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs58331765, ExAC 0.5%) and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in individual(s) with Stargardt disease (PMID: 30093795, 29114839, 19365591, 23755871, 28430335, 9973280, 9054934). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 7880). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073603 SCV001239154 pathogenic Retinal dystrophy 2019-07-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001101952 SCV001258596 likely benign ABCA4-Related Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000008330 SCV000028538 pathogenic Stargardt disease 1 1997-03-01 no assertion criteria provided literature only
Retina International RCV000085506 SCV000117643 not provided not provided no assertion provided not provided
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002838 SCV001160858 pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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