ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.638del (p.Phe213fs) (rs1196443543)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531347 SCV000631916 pathogenic Propionyl-CoA carboxylase deficiency 2016-12-13 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 6 of the PCCB mRNA (c.638delT), causing a frameshift at codon 213. This creates a premature translational stop signal (p.Phe213Serfs*5) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in PCCB are known to be pathogenic (PMID: 15464417). For these reasons, this variant has been classified as Pathogenic.

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