ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.460C>T (p.Arg154Ter)

gnomAD frequency: 0.00001  dbSNP: rs369153479
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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 RCV001387210 SCV001587775 pathogenic Mitochondrial DNA depletion syndrome 9 2020-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg154*) in the SUCLG1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs369153479, ExAC 0.003%). This variant has not been reported in the literature in individuals with SUCLG1-related conditions. Loss-of-function variants in SUCLG1 are known to be pathogenic (PMID: 20693550). For these reasons, this variant has been classified as Pathogenic.

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