ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.21C>G (p.Tyr7Ter)

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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 RCV003055458 SCV003340677 pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr7*) 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 not present in population databases (gnomAD no frequency). 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: 2127356).

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