ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1756T>A (p.Tyr586Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002735529 SCV003010314 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 (rs542690685, gnomAD 0.02%). 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 tolerated. 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. This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 586 of the SDCCAG8 protein (p.Tyr586Asn).

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