ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)

gnomAD frequency: 0.00006  dbSNP: rs140281495
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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 RCV001074539 SCV001240128 uncertain significance Retinal dystrophy 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV001346357 SCV001540551 uncertain significance not provided 2022-10-21 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 859 of the ABCA4 protein (p.Gln859Arg). This variant is present in population databases (rs140281495, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 866492). 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. 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 RCV002505665 SCV002814681 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2022-03-29 criteria provided, single submitter clinical testing

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