ClinVar Miner

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

dbSNP: rs1560985916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236314 SCV001409034 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-06-02 criteria provided, single submitter clinical testing 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with gastrointestinal stromal tumors (PMID: 23060355). ClinVar contains an entry for this variant (Variation ID: 962458). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001565032 SCV001788298 pathogenic not provided 2024-04-25 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, 36980917, 23060355)
Myriad Genetics, Inc. RCV004789489 SCV005406070 pathogenic Paragangliomas 5 2024-08-20 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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