ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.466_467delinsTT (p.Arg156Phe)

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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 RCV002659343 SCV002982102 uncertain significance Leber congenital amaurosis 12 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with phenylalanine, which is neutral and non-polar, at codon 156 of the RD3 protein (p.Arg156Phe). This variant is present in population databases (no rsID available, gnomAD 0.04%). 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. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with RD3-related conditions.

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