ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser)

dbSNP: rs1057518767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199212 SCV001370234 pathogenic Age related macular degeneration 2 2019-02-27 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PP2,PP3,PP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861442 SCV002232699 pathogenic not provided 2023-12-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 230 of the ABCA4 protein (p.Cys230Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Stargardt disease (PMID: 10958763, 11702214, 15192030; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 373916). 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415009 SCV000492544 likely pathogenic Visual impairment; Central scotoma; Macular degeneration; Retinal atrophy 2016-06-12 no assertion criteria provided clinical testing

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