ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg)

gnomAD frequency: 0.00014  dbSNP: rs1339233014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002009180 SCV002277384 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 2187 of the ABCA4 protein (p.Gln2187Arg). This variant is present in population databases (no rsID available, gnomAD 0.04%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 15192030). ClinVar contains an entry for this variant (Variation ID: 1488510). 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 not expected to disrupt ABCA4 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002486550 SCV002777746 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2022-03-01 criteria provided, single submitter clinical testing

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