ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.2156_2159del (p.Ser719fs)

dbSNP: rs2135803326
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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 RCV001390025 SCV001591595 pathogenic Pyruvate carboxylase deficiency 2023-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser719Cysfs*28) 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: 1076206). For these reasons, this variant has been classified as Pathogenic.

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