ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)

gnomAD frequency: 0.00003  dbSNP: rs61748556
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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 RCV000408566 SCV000281822 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074843 SCV001240444 pathogenic Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing
Invitae RCV000085405 SCV001586715 pathogenic not provided 2023-12-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 537 of the ABCA4 protein (p.Arg537Cys). This variant is present in population databases (rs61748556, gnomAD 0.007%). This missense change has been observed in individuals with clinical features of Stargardt disease (PMID: 11527935, 19243736, 23755871, 28947085). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 99062). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000085405 SCV001791111 likely pathogenic not provided 2022-11-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 14517951, 28947085, 28041643, 19243736, 29555028, 28118664, 23755871, 25066811, 35119454, Saleh[article]2021, 32619608, 11527935, 32581362)
Genetics and Molecular Pathology, SA Pathology RCV000408566 SCV002556559 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-09-17 criteria provided, single submitter clinical testing PM2, PM3_Strong, PP3
Retina International RCV000085405 SCV000117542 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505043 SCV000598937 likely pathogenic Macular dystrophy 2015-01-01 no assertion criteria provided research

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