ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs)

gnomAD frequency: 0.00001  dbSNP: rs1425790333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565395 SCV001788734 likely pathogenic not provided 2021-05-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003771723 SCV004653665 pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2023-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1200382). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Val119Glufs*4) 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).

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