ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.69_78del (p.Gln23fs)

dbSNP: rs781030239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672652 SCV000797778 likely pathogenic Propionic acidemia 2018-02-15 criteria provided, single submitter clinical testing
Invitae RCV000672652 SCV002152079 pathogenic Propionic acidemia 2023-05-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 556623). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with propionic aciduria (PMID: 27489777). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln23Hisfs*2) 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 RCV000672652 SCV004202873 pathogenic Propionic acidemia 2023-06-19 criteria provided, single submitter clinical testing

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