ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe)

dbSNP: rs1303289867
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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 RCV001075347 SCV001240967 uncertain significance Retinal dystrophy 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV001322658 SCV001513538 pathogenic not provided 2022-10-04 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: 866942). This missense change has been observed in individual(s) with Stargardt disease (PMID: 32619608, 32783370). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2127 of the ABCA4 protein (p.Ser2127Phe).

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