ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1726G>C (p.Asp576His)

gnomAD frequency: 0.00001  dbSNP: rs374224955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073439 SCV001238980 likely pathogenic Retinal dystrophy 2019-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862502 SCV002310201 pathogenic not provided 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 576 of the ABCA4 protein (p.Asp576His). This variant is present in population databases (rs374224955, gnomAD 0.004%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 23143460, 29925512; Invitae). ClinVar contains an entry for this variant (Variation ID: 865882). 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.
Fulgent Genetics, Fulgent Genetics RCV005029674 SCV005663528 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-02-14 criteria provided, single submitter clinical testing

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