ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser)

gnomAD frequency: 0.00001  dbSNP: rs1357310997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001921134 SCV002189296 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-09-15 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 (ExAC no frequency). This sequence change replaces leucine with serine at codon 250 of the SDCCAG8 protein (p.Leu250Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine.
Fulgent Genetics, Fulgent Genetics RCV001921134 SCV002787762 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-12-15 criteria provided, single submitter clinical testing

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