ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg)

gnomAD frequency: 0.00001  dbSNP: rs760154232
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068847 SCV001233980 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 608 of the SDCCAG8 protein (p.Lys608Arg). This variant is present in population databases (rs760154232, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 862173). 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.

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