ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)

gnomAD frequency: 0.00034  dbSNP: rs150895509
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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 RCV001073352 SCV001238892 uncertain significance Retinal dystrophy 2018-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001220401 SCV001392389 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1139 of the ABCA4 protein (p.Tyr1139Cys). This variant is present in population databases (rs150895509, gnomAD 0.1%). This missense change has been observed in individual(s) with ABCA4-related disease (PMID: 25066811). ClinVar contains an entry for this variant (Variation ID: 865830). 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 RCV002497485 SCV002775272 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2022-02-07 criteria provided, single submitter clinical testing

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