ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) (rs775563122)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351767 SCV000441261 uncertain significance Propionyl-CoA carboxylase deficiency 2017-04-27 criteria provided, single submitter clinical testing The PCCB c.1402G>A (p.Ala468Thr) missense variant has been identified in a compound heterozygous state in one individual with mild propionic acidemia (Yorifuji et al. 2002). Control data are unavailable for this variant, which is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium, but this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. When analyzed in vivo, the p.Ala468Thr variant was found to have 5.49% of wildtype PCC activity. The evidence for this variant is limited. The p.Ala468Thr variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for propionic acidemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Counsyl RCV000351767 SCV000798311 uncertain significance Propionyl-CoA carboxylase deficiency 2018-03-07 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.