ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.954del (p.Ile319fs)

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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 RCV003802524 SCV004605726 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile319Leufs*29) 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 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.

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