ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.447del (p.Val150fs)

dbSNP: rs2126547751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001956560 SCV002240890 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2021-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val150Trpfs*4) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV004598166 SCV005092315 pathogenic not provided 2024-07-01 criteria provided, single submitter clinical testing SDHA: PVS1, PM2

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