ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn)

dbSNP: rs2149262996
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001886911 SCV002167394 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-10-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 28 of the SDCCAG8 protein (p.Ser28Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. 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"). 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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