ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser)

dbSNP: rs764589805
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042626 SCV001206322 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2021-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RPE65-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 366 of the RPE65 protein (p.Arg366Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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