ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.119G>A (p.Arg40Gln) (rs772450693)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226923 SCV000287792 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 3 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 40 of the SDHC protein (p.Arg40Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs772450693, ExAC 0.02%). This variant has not been reported in the literature in individuals with SDHC-related disease. ClinVar contains an entry for this variant (Variation ID: 239446). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV000568226 SCV000675096 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000663162 SCV000786319 uncertain significance Paragangliomas 3 2018-04-06 criteria provided, single submitter clinical testing

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