ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.2124G>A (p.Met708Ile)

dbSNP: rs1669058410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001944990 SCV002180037 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 708 of the SDCCAG8 protein (p.Met708Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. 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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