ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met)

dbSNP: rs548855151
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002037047 SCV002318301 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2020-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with methionine at codon 629 of the SDCCAG8 protein (p.Arg629Met). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and methionine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SDCCAG8-related conditions. This variant is not present in population databases (ExAC no frequency).

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