ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1034A>G (p.Tyr345Cys)

dbSNP: rs1417184535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074077 SCV001239646 uncertain significance Retinal dystrophy 2018-12-14 criteria provided, single submitter clinical testing
Invitae RCV002557904 SCV003523337 pathogenic not provided 2023-10-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 345 of the ABCA4 protein (p.Tyr345Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Stargardt disease (PMID: 28446513, 29925512, 33301772). ClinVar contains an entry for this variant (Variation ID: 866242). 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.

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