ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1218_1228delinsTAGAGCACA (p.Gly407fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004766479 SCV005380772 pathogenic Propionic acidemia 2024-08-09 criteria provided, single submitter clinical testing Variant summary: PCCB c.1218_1228delinsTAGAGCACA (p.Gly407ArgfsX14) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 282460 control chromosomes. c.1218_1228delinsTAGAGCACA has been reported in the literature in multiple individuals affected with Propionic Acidemia and has been reported as a common pathogenic variant. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 9683601). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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