ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.704A>G (p.Glu235Gly)

gnomAD frequency: 0.00004  dbSNP: rs767946700
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000232054 SCV000290787 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 235 of the GALNT12 protein (p.Glu235Gly). This variant is present in population databases (rs767946700, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. ClinVar contains an entry for this variant (Variation ID: 241515). 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 with a negative predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004020879 SCV001188258 uncertain significance not specified 2023-10-25 criteria provided, single submitter clinical testing The c.704A>G (p.E235G) alteration is located in exon 3 (coding exon 3) of the GALNT12 gene. This alteration results from a A to G substitution at nucleotide position 704, causing the glutamic acid (E) at amino acid position 235 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003463682 SCV004196158 uncertain significance Colorectal cancer, susceptibility to, 1 2024-01-31 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.