ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg)

gnomAD frequency: 0.00012  dbSNP: rs765282250
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
Baylor Genetics RCV001335341 SCV001528471 uncertain significance 46,XY sex reversal 6 2018-11-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001335341 SCV002246307 benign 46,XY sex reversal 6 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547339 SCV003701326 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.44C>G (p.P15R) alteration is located in exon 1 (coding exon 1) of the MAP3K1 gene. This alteration results from a C to G substitution at nucleotide position 44, causing the proline (P) at amino acid position 15 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, 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.