ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.73A>G (p.Arg25Gly) (rs878854587)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229192 SCV000287807 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 3 2016-01-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 25 of the SDHC protein (p.Arg25Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SDHC-related disease. 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. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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