ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)

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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 RCV003780942 SCV004569083 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with paraganglioma-pheochromocytoma syndromes (PMID: 31492822). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln235*) 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).

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