ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002595472 SCV003495136 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-02-25 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 disruptive. This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 484 of the SDCCAG8 protein (p.Arg484Ser).

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