ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)

dbSNP: rs768514713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504155 SCV000596244 pathogenic Pyruvate carboxylase deficiency 2016-08-08 criteria provided, single submitter clinical testing
Invitae RCV000504155 SCV003024076 pathogenic Pyruvate carboxylase deficiency 2022-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg453*) in the PC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PC are known to be pathogenic (PMID: 12112657, 19306334). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PC-related conditions. ClinVar contains an entry for this variant (Variation ID: 436166). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000504155 SCV004202800 likely pathogenic Pyruvate carboxylase deficiency 2023-09-22 criteria provided, single submitter clinical testing

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