ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val)

gnomAD frequency: 0.00001  dbSNP: rs778488043
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057901 SCV001222423 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2019-11-29 criteria provided, single submitter clinical testing 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, 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. This variant has not been reported in the literature in individuals with SDCCAG8-related conditions. This variant is present in population databases (rs778488043, ExAC 0.006%). This sequence change replaces methionine with valine at codon 708 of the SDCCAG8 protein (p.Met708Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine.

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