ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly)

gnomAD frequency: 0.00010  dbSNP: rs770306576
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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 RCV001246446 SCV001419800 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-08-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 970802). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs770306576, gnomAD 0.08%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 518 of the SDCCAG8 protein (p.Arg518Gly). 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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