ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter)

dbSNP: rs2126631964
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001924318 SCV002202083 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-08-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln520*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1425164). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This variant is not present in population databases (gnomAD no frequency).

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