ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys)

gnomAD frequency: 0.00001  dbSNP: rs940867738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073382 SCV001238923 uncertain significance Retinal dystrophy 2019-01-05 criteria provided, single submitter clinical testing
Invitae RCV001862498 SCV002225866 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 865847). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 2165 of the ABCA4 protein (p.Tyr2165Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.

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