ClinVar Miner

Submissions for variant NM_004563.4(PCK2):c.1234+1G>T

gnomAD frequency: 0.00193  dbSNP: rs138881435
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676223 SCV000709831 uncertain significance not provided 2018-02-07 criteria provided, single submitter clinical testing The c.1234+1G>T variant in the PCK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 7. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1234+1G>T variant is observed in 278/276812 (0.1%) alleles in large population cohorts, with no homozygotes observed (Lek et al., 2016). We interpret c.1234+1G>T as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000676223 SCV002455439 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676223 SCV000801977 uncertain significance not provided 2017-12-28 no assertion criteria provided 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.