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: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371824 SCV001568406 pathogenic not provided 2024-12-16 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). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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)
Fulgent Genetics, Fulgent Genetics RCV005029676 SCV005656820 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-03-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073878 SCV001239442 uncertain significance Retinal dystrophy 2018-07-27 flagged submission clinical testing
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV004564573 SCV005049503 likely pathogenic Severe early-childhood-onset retinal dystrophy no assertion criteria provided research

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