ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys)

gnomAD frequency: 0.00002  dbSNP: rs774139674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001938319 SCV002195424 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-04-16 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SDCCAG8-related conditions. This variant is present in population databases (rs774139674, ExAC 0.01%). This sequence change replaces glutamic acid with lysine at codon 240 of the SDCCAG8 protein (p.Glu240Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Fulgent Genetics, Fulgent Genetics RCV001938319 SCV002790895 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-29 criteria provided, single submitter clinical testing

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