ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)

dbSNP: rs1579386206
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818060 SCV000958655 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2018-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser208Leufs*18) in the SDHA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). This variant has not been reported in the literature in individuals with SDHA-related disease.

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