ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.949G>C (p.Val317Leu)

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
Ambry Genetics RCV004056860 SCV002688220 uncertain significance not specified 2023-12-23 criteria provided, single submitter clinical testing The p.V317L variant (also known as c.949G>C), located in coding exon 5 of the GALNT12 gene, results from a G to C substitution at nucleotide position 949. The valine at codon 317 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003464501 SCV004197960 uncertain significance Colorectal cancer, susceptibility to, 1 2023-10-26 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.