ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.32G>A (p.Arg11His)

dbSNP: rs767802663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233939 SCV000287800 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 11 of the SDHC protein (p.Arg11His). This variant is present in population databases (rs767802663, gnomAD 0.003%). This missense change has been observed in individual(s) with a personal and family history of breast and/or ovarian cancer (PMID: 28202063). ClinVar contains an entry for this variant (Variation ID: 239454). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001762528 SCV001998923 uncertain significance not provided 2019-09-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV002256146 SCV002527107 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-30 criteria provided, single submitter curation

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