ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.349_350del (p.Lys117fs)

dbSNP: rs1672291512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202377 SCV001373487 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2019-06-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHC gene (p.Lys117Valfs*89). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 53 amino acids of the SDHC protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHC-related conditions. This variant disrupts the C-terminus of the SDHC protein. Other variant(s) that disrupt this region (p.Arg133*) have been determined to be pathogenic (PMID: 23083876, 24423348, 24758179, 27700540). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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