ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.443C>A (p.Pro148His)

dbSNP: rs104893895
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 RCV001210266 SCV001381745 pathogenic Cranium bifidum occultum 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 148 of the MSX2 protein (p.Pro148His). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Boston-type craniosynostosis in a family (PMID: 8106171). ClinVar contains an entry for this variant (Variation ID: 16961). This variant has been reported to affect MSX2 protein function (PMID: 9256341, 27013732, 18786927). This variant disrupts the p.Pro148 amino acid residue in MSX2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23949913, 23918290). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018474 SCV000038756 pathogenic Craniosynostosis 2 1996-12-01 no assertion criteria provided literature only
GeneReviews RCV000018474 SCV000055821 not provided Craniosynostosis 2 no assertion provided literature only

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.