ClinVar Miner

Submissions for variant NC_000001.11:g.(?_161356667)_(161362443_?)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 RCV000805911 SCV000945886 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2019-04-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 5-6 of the SDHC gene. The 5' boundary is likely confined to intron 4. 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 protein product or disrupt mRNA translation. A deletion of exons 5-6 has been observed in individuals affected with paraganglioma and pheochromocytoma (PGL/PCC) syndrome (PMID: 19546167, 27485256). Sub-genic deletion of exon 6 has been determined to be pathogenic (PMID: 15342702). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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