ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)

gnomAD frequency: 0.00001  dbSNP: rs61750651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085815 SCV001514124 pathogenic not provided 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 2128 of the ABCA4 protein (p.His2128Arg). This variant is present in population databases (rs61750651, gnomAD 0.003%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 23419329, 29925512). 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: 99455). 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.
Retina International RCV000085815 SCV000117958 not provided not provided no assertion provided not provided
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV004562251 SCV005049499 pathogenic Severe early-childhood-onset retinal dystrophy no assertion criteria provided research

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