ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)

gnomAD frequency: 0.00001  dbSNP: rs61748552
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085388 SCV001229072 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 445 of the ABCA4 protein (p.Ser445Arg). This variant is present in population databases (rs61748552, gnomAD 0.002%). This missense change has been observed in individuals with Stargardt disease (PMID: 26872967, 28041643; Invitae). ClinVar contains an entry for this variant (Variation ID: 99045). 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. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000210294 SCV001239905 likely pathogenic Retinal dystrophy 2019-07-10 criteria provided, single submitter clinical testing
Retina International RCV000085388 SCV000117525 not provided not provided no assertion provided not provided
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000210294 SCV000259079 likely pathogenic Retinal dystrophy 2015-01-21 no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504649 SCV000598932 likely pathogenic Severe early-childhood-onset retinal dystrophy 2015-01-01 no assertion criteria provided research

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