ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly)

dbSNP: rs1179385721
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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 RCV001247295 SCV001420707 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-06-02 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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). This sequence change replaces serine with glycine at codon 26 of the SDCCAG8 protein (p.Ser26Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine.

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