ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.278dup (p.Gly94fs)

dbSNP: rs1483039185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384853 SCV001584503 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2022-02-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1072200). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gly94Trpfs*4) 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: 17667967, 19454582, 23282968, 24758179).

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