ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1477del (p.Arg493fs)

dbSNP: rs746733688
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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 RCV001942314 SCV002229320 pathogenic Propionic acidemia 2022-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with propionic acidemia (PMID: 30274917). This variant is present in population databases (rs746733688, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg493Alafs*3) 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).
Baylor Genetics RCV001942314 SCV004202911 pathogenic Propionic acidemia 2022-01-12 criteria provided, single submitter clinical testing

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