ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.472G>A (p.Glu158Lys)

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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 RCV002626105 SCV002962778 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-04-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs367590060, gnomAD 0.004%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 158 of the SDCCAG8 protein (p.Glu158Lys). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. 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 disruptive. 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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