ClinVar Miner

Submissions for variant NC_000001.11:g.(?_17018871)_(17018968_?)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 RCV000803920 SCV000943808 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2018-10-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 8 of the SDHB gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated SDHB protein or disrupt mRNA translation. A deletion of exon 8 has been observed in an individual with a personal and family history of paraganglioma (Invitae). Other truncations (p.Ile263Tyrfs*12, p.Ile263Serfs*13) that lie downstream of this deletion have been observed in individuals affected with paraganglioma, pheochromocytoma or renal cell carcinoma, and have been determined to be likely pathogenic (Invitae). This suggests that deletion of this region of the SDHB protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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