ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.141G>A (p.Trp47Ter) (rs1060503762)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474236 SCV000554009 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp47*) in the SDHB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with paraganglioma, pheochromocytoma, and renal cell carcinoma (PMID: 16405730, 21348866, 18419787, 29386252). ClinVar contains an entry for this variant (Variation ID: 412474). Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001561407 SCV001784010 pathogenic not provided 2021-01-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Identified in patients with SDHB-related cancers (Bayley 2006, Srirangalingam 2008, Bayley 2020); Also known as W19X; This variant is associated with the following publications: (PMID: 31492822, 18419787, 16405730, 28748451, 31579262, 30694796, 21686655, 19184535, 21348866, 19208735, 19802898, 28973655)

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