ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr)

dbSNP: rs550046293
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000701268 SCV000830060 likely benign Atrial septal defect 7 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440511 SCV002746901 uncertain significance Cardiovascular phenotype 2024-01-27 criteria provided, single submitter clinical testing The p.P100T variant (also known as c.298C>A), located in coding exon 1 of the NKX2-5 gene, results from a C to A substitution at nucleotide position 298. The proline at codon 100 is replaced by threonine, an amino acid with highly 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.

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.