ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1183C>A (p.Leu395Met)

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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 RCV002975303 SCV003280562 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-07-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 395 of the RPE65 protein (p.Leu395Met). This variant is present in population databases (rs760264027, gnomAD 0.007%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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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