ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.321+5G>A (rs200766019)

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
GeneDx RCV000186124 SCV000239149 uncertain significance not specified 2016-05-23 criteria provided, single submitter clinical testing c.321+5 G>A: IVS4+5 G>A in intron 4 of the PC gene (NM_000920.3) A variant of unknown significance has been identified in the PC gene. The c.321+5 G>A sequence change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The 1000 Genomes Database reports c.321+5 G>A was observed in 3/90 alleles from individuals of Finnish background. In-silico splice predictor models predict that c.321+5 G>A damages the natural splice donor site in intron 4, which would be expected to lead to abnormal gene splicing. However, the true effect of c.321+5 G>A on splicing in vivo is not known. Therefore, based on the currently available information, it is unclear whether c.321+5 G>A is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Invitae RCV000935621 SCV001081373 benign Pyruvate carboxylase deficiency 2020-11-12 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.