ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.398A>G (p.Glu133Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003070040 SCV003471378 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 133 of the SDCCAG8 protein (p.Glu133Gly). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0").

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