ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) (rs201869920)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504492 SCV000596994 uncertain significance not specified 2016-09-27 criteria provided, single submitter clinical testing
Invitae RCV000704873 SCV000833844 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2018-04-03 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 260 of the SDCCAG8 protein (p.Leu260Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs201869920, ExAC 0.08%). This variant has not been reported in the literature in individuals with SDCCAG8-related disease. ClinVar contains an entry for this variant (Variation ID: 436676). 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. 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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