ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.814C>T (p.Gln272Ter)

gnomAD frequency: 0.00001  dbSNP: rs1246050542
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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 RCV001783829 SCV002986181 pathogenic Mitochondrial DNA depletion syndrome 9 2023-08-11 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln272*) in the SUCLG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SUCLG1 are known to be pathogenic (PMID: 20693550). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1325153). For these reasons, this variant has been classified as Pathogenic.

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