ClinVar Miner

Submissions for variant NC_000001.11:g.(?_161356667)_(161356850_?)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 RCV000798825 SCV000938458 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2022-03-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the SDHC gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individuals with clinical features of SDHC-related conditions and/or head and neck paraganglioma (PMID: 19351833; Invitae). For these reasons, this variant has been classified as Pathogenic.

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