ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.247dup (p.Ser83fs)

dbSNP: rs1672284298
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058295 SCV001222853 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2019-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser83Phefs*15) in the SDHC gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SDHC are known to be pathogenic (PMID: 19454582, 24758179). This variant has not been reported in the literature in individuals with SDHC-related conditions. This variant is not present in population databases (ExAC no frequency).

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