ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.731G>A (p.Gly244Asp)

dbSNP: rs2100819283
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001923409 SCV002188013 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-01-11 criteria provided, single submitter clinical testing 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. 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 RPE65 protein function. This variant has not been reported in the literature in individuals affected with RPE65-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 244 of the RPE65 protein (p.Gly244Asp).

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