ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)

dbSNP: rs1560985916
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236314 SCV001409034 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-01-28 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with gastrointestinal stromal tumors (PMID: 23060355). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 962458). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln54*) in the SDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757).
GeneDx RCV001565032 SCV001788298 pathogenic not provided 2023-03-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25394176, 22974104, 24886695, 30201732, 23060355)

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