ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1415dup (p.Asn472fs)

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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 RCV003624017 SCV004479484 pathogenic Propionic acidemia 2023-04-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn472Lysfs*10) 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. For these reasons, this variant has been classified as Pathogenic.

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