ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003003327 SCV003301176 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2022-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp47Ilefs*32) in 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 (PMID: 19454582, 19802898). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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