ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.251dup (p.Tyr84Ter)

dbSNP: rs1309421397
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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 RCV001975069 SCV002244457 pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2023-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr84*) in the SUCLA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SUCLA2 are known to be pathogenic (PMID: 15877282, 17301081). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1458811). For these reasons, this variant has been classified as Pathogenic.

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