ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp)

dbSNP: rs1195430987
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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 RCV001074557 SCV001240148 uncertain significance Retinal dystrophy 2018-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001308734 SCV001498203 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 866504). This missense change has been observed in individual(s) with Stargardt disease (PMID: 25312043; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1770 of the ABCA4 protein (p.Tyr1770Asp).

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