ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) (rs61749412)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408475 SCV000281832 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV000085431 SCV001218585 pathogenic not provided 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 607 of the ABCA4 protein (p.Gly607Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs61749412, ExAC 0.01%). This variant has been observed in individual(s) with Stargardt disease (PMID: 23755871, 24632595, 24763286, 28559085). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99087). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075859 SCV001241498 pathogenic Retinal dystrophy 2019-08-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001100047 SCV001256548 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Retina International RCV000085431 SCV000117568 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000408475 SCV000598943 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787762 SCV000926767 likely pathogenic Stargardt disease 2018-04-01 no assertion criteria provided research

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