ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.131G>T (p.Arg44Leu)

dbSNP: rs61751282
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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 RCV001973421 SCV002260222 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-02-08 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with RPE65-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 44 of the RPE65 protein (p.Arg44Leu). This variant disrupts the p.Arg44 amino acid residue in RPE65. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11462243, 15024725, 18539930, 19431183, 20079931). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: "Deleterious"; 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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