ClinVar Miner

Submissions for variant NC_000001.11:g.(?_17033054)_(17033151_?)del

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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 RCV000633991 SCV000755264 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2018-03-09 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the SDHB gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletions of exon 3 of the SDHB gene have been reported in more than one individual affected with head and neck paraganglioma (PMID: 19351833). Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.

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