ClinVar Miner

Submissions for variant NC_000001.11:g.(?_17044751)_(17044898_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804608 SCV000944525 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2022-06-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the SDHB gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). A similar copy number variant has been observed in individual(s) with an abdominal paraganglioma (PMID: 23666964). For these reasons, this variant has been classified as Pathogenic.

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