ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5271G>A (p.Ser1757=)

gnomAD frequency: 0.00002  dbSNP: rs397516630
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037050 SCV000060706 uncertain significance not specified 2013-02-18 criteria provided, single submitter clinical testing The Ser1757Ser variant in MYH14 has not been reported in the literature nor prev iously identified by our laboratory. The G to A substitution causes a sequence c hange 15 bases into the exon that could create an alternate 3?splice site leadin g to an out of frame deletion. Experimental evidence would be needed to evaluate this possibility. In summary, the clinical significance of these variants canno t be determined with certainty.

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.