ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.374C>G (p.Ser125Ter) (rs786203506)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456990 SCV000553984 pathogenic Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2016-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 125 (p.Ser125*) of the SDHB gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in SDHB are known to be pathogenic (PMID: 19802898, 19454582). For these reasons, this variant has been classified as Pathogenic.

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