ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1637A>G (p.Lys546Arg)

gnomAD frequency: 0.00002  dbSNP: rs374166991
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
Ambry Genetics RCV004030339 SCV001172836 uncertain significance not specified 2022-12-23 criteria provided, single submitter clinical testing The p.K546R variant (also known as c.1637A>G), located in coding exon 10 of the GALNT12 gene, results from an A to G substitution at nucleotide position 1637. The lysine at codon 546 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862787 SCV002263347 uncertain significance not provided 2023-02-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 819655). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GALNT12 protein function. This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. This variant is present in population databases (rs374166991, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 546 of the GALNT12 protein (p.Lys546Arg).
Baylor Genetics RCV004569899 SCV005058820 uncertain significance Colorectal cancer, susceptibility to, 1 2024-02-01 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.