ClinVar Miner

Submissions for variant NC_000001.11:g.(?_161323604)_(161328507_?)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 RCV001031710 SCV001195016 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2022-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg50 amino acid residue in SDHC. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23175444, 23666964, 24102379, 27279923). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant is also known as c.20-?_180-?del. A similar copy number variant has been observed in individuals with clinical features of hereditary paraganglioma-pheochromocytoma (PMID: 24758179). This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the SDHC gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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