ClinVar Miner

Submissions for variant NC_000001.11:g.(?_161356677)_(161356840_?)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 RCV000473701 SCV000563852 pathogenic Paragangliomas 3 2016-06-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 5 of the SDHC gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Gross deletions in SDHC are known to be pathogenic. This particular truncation has been reported in an individual affected with head and neck paraganglioma (PMID: 19351833). For these reasons, this variant has been classified as Pathogenic.

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