ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.32G>A (p.Arg11His) (rs767802663)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233939 SCV000287800 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 3 2016-02-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 11 of the SDHC protein (p.Arg11His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs767802663, ExAC <0.01%) but has not been reported in the literature in individuals with a SDHC-related disease. The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, 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 rare 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. Therefore, it has been classified as a Variant of Uncertain Significance.

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