ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)

dbSNP: rs61749429
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085469 SCV001498171 pathogenic not provided 2022-10-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 99125). This missense change has been observed in individual(s) with Stargardt disease (PMID: 11328725, 31456290; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 765 of the ABCA4 protein (p.Ser765Asn). 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. Experimental studies have shown that this missense change affects ABCA4 function (PMID: 33375396).
Retina International RCV000085469 SCV000117606 not provided not provided no assertion provided not provided
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002839 SCV001160860 likely pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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