ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.124del (p.Trp42fs)

dbSNP: rs2102307803
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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 RCV001385231 SCV001584996 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2021-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp42Glyfs*5) in the SDHC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHC are known to be pathogenic (PMID: 19454582, 24758179). 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. For these reasons, this variant has been classified as Pathogenic.

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