ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) (rs768703749)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000236395 SCV000800257 likely pathogenic Propionyl-CoA carboxylase deficiency 2018-05-29 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000236395 SCV000256855 pathogenic Propionyl-CoA carboxylase deficiency 2012-01-01 criteria provided, single submitter research
Invitae RCV000236395 SCV000936965 pathogenic Propionyl-CoA carboxylase deficiency 2018-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg476*) in the PCCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs768703749, ExAC 0.02%). This variant has been observed in to be homozygous in an individual  affected with propionic acidemia (PMID: 27227689). ClinVar contains an entry for this variant (Variation ID: 218264). Loss-of-function variants in PCCA are known to be pathogenic (PMID: 15464417). For these reasons, this variant has been classified as Pathogenic.

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