ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1432G>A (p.Ala478Thr)

dbSNP: rs2100806829
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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 RCV001895463 SCV002157179 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 478 of the RPE65 protein (p.Ala478Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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