ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211133 SCV001382658 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 113 of the SDHB protein (p.Cys113Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with paraganglioma in a family and has also been reported in individuals with SDHB-related conditions (PMID: 27896548, 30694796, 19802898, 25025441, Invitae). This variant has been reported to affect SDHB protein function (PMID: 26719882). This variant disrupts the p.Cys113 amino acid residue in SDHB. Other variant(s) that disrupt this residue have been observed in individuals with SDHB-related conditions (PMID: 27539324), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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