ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)

gnomAD frequency: 0.00001  dbSNP: rs2053984648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054472 SCV001218788 pathogenic Propionic acidemia 2023-02-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PCCA-related conditions. This sequence change creates a premature translational stop signal (p.Glu151*) 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). ClinVar contains an entry for this variant (Variation ID: 850325). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001054472 SCV004202834 likely pathogenic Propionic acidemia 2023-10-26 criteria provided, single submitter clinical testing

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