ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.602G>A (p.Trp201Ter) (rs1060503759)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458792 SCV000554004 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2016-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 201 (p.Trp201*) of the SDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHB are known to be pathogenic. A different variant c.603G>A that has the same protein effect of p.Trp201* has been reported in the literature in an individual affected with paraganglioma (PMID: 25405498). For these reasons, this variant has been classified as Pathogenic.

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