ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.734C>G (p.Ser245Ter)

dbSNP: rs1594992191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000790487 SCV001203493 pathogenic Propionic acidemia 2024-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser245*) in the PCCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCCA are known to be pathogenic (PMID: 15464417). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PCCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 638024). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Metabolic Disorders, Peking University First Hospital RCV000790487 SCV000929814 pathogenic Propionic acidemia 2019-05-08 no assertion criteria provided clinical testing

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