ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.553dup (p.Thr185fs)

dbSNP: rs777455573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673161 SCV000798334 likely pathogenic Propionic acidemia 2018-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673161 SCV004395254 pathogenic Propionic acidemia 2024-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr185Asnfs*45) in the PCCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCCB are known to be pathogenic (PMID: 15464417). This variant is present in population databases (rs777455573, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PCCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 557071). For these reasons, this variant has been classified as Pathogenic.

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