ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3731A>C (p.Gln1244Pro)

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 RCV004049785 SCV002624629 uncertain significance not specified 2023-05-14 criteria provided, single submitter clinical testing The p.Q1244P variant (also known as c.3731A>C), located in coding exon 7 of the MLH3 gene, results from an A to C substitution at nucleotide position 3731. The glutamine at codon 1244 is replaced by proline, an amino acid with similar properties. This amino acid position is not well 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.
PreventionGenetics, part of Exact Sciences RCV003408234 SCV004107838 uncertain significance MLH3-related disorder 2023-08-10 criteria provided, single submitter clinical testing The MLH3 c.3731A>C variant is predicted to result in the amino acid substitution p.Gln1244Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-75498867-T-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004049785 SCV005090105 uncertain significance not specified 2025-03-04 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.