ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.2953del (p.Leu985fs)

dbSNP: rs2135790424
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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 RCV001380678 SCV001578806 pathogenic Pyruvate carboxylase deficiency 2020-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu985Trpfs*11) in the PC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PC-related conditions. Loss-of-function variants in PC are known to be pathogenic (PMID: 12112657, 19306334). For these reasons, this variant has been classified as Pathogenic.

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