ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.169G>A (p.Gly57Ser)

gnomAD frequency: 0.00001  dbSNP: rs750239049
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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 RCV001967486 SCV002198581 uncertain significance Leber congenital amaurosis 12 2022-04-28 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals affected with RD3-related conditions. This variant is present in population databases (rs750239049, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 57 of the RD3 protein (p.Gly57Ser).

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