ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys)

gnomAD frequency: 0.00002  dbSNP: rs62645942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001102140 SCV001258792 uncertain significance ABCA4-related disorder 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000085858 SCV001411121 pathogenic not provided 2023-12-22 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 24 of the ABCA4 protein (p.Arg24Cys). This variant is present in population databases (rs62645942, gnomAD 0.01%). This missense change has been observed in individuals with cone-rod dystrophy or Stargardt disease (PMID: 15494742, 28559085, 29162642, 30093795). ClinVar contains an entry for this variant (Variation ID: 99497). 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.
Retina International RCV000085858 SCV000118001 not provided not provided no assertion provided not provided

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