ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)

gnomAD frequency: 0.00010  dbSNP: rs779585931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001371824 SCV001568406 pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2240 of the ABCA4 protein (p.Thr2240Ala). This variant is present in population databases (rs779585931, gnomAD 0.01%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 21911583, 23755871, 32619608). 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: 866115). 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.
GeneDx RCV001371824 SCV001772387 likely pathogenic not provided 2020-11-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17296903, 23755871, 32619608, 32483926, 21911583)
Blueprint Genetics RCV001073878 SCV001239442 uncertain significance Retinal dystrophy 2018-07-27 flagged submission clinical testing

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