ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.519A>T (p.Val173=)

dbSNP: rs1471931068
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780391 SCV000917604 uncertain significance not specified 2017-11-20 criteria provided, single submitter clinical testing Variant summary: The MAP2K1 c.519A>T (p.Val173Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict a significant impact on normal splicing (loss of canonical splicing donor site). However, these predictions have yet to be confirmed by functional studies. This variant is absent in 246194 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS.
Labcorp Genetics (formerly Invitae), Labcorp RCV001456490 SCV001660274 likely benign RASopathy 2018-09-10 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.