ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224869 SCV001397095 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2019-08-10 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 189 of the SDHB protein (p.Cys189Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with paraganglioma (PMID: 19454582, 26719882). This variant has been reported to affect SDHB protein function (PMID: 26719882). 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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