ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.398G>A (p.Arg133Gln) (rs386833414)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034694 SCV000043494 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Invitae RCV000797358 SCV000936911 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 3 2018-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 133 of the SDHC protein (p.Arg133Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHC-related disease. ClinVar contains an entry for this variant (Variation ID: 41775). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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