ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2716G>A (p.Asp906Asn)

dbSNP: rs397516164
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 RCV000035815 SCV000059466 uncertain significance not specified 2010-06-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. Aspartic acid ( Asp) at position 906 is conserved across evolutionary distant species, increasin g the likelihood that the change is pathogenic. In addition, the vast majority o f missense variants in MYH7 are pathogenic (LMM unpublished data), further incre asing the likelihood that this variant is disease causing. Finally, another cha nge at the same position (Asp906Gly) is known to be disease causing. However, in the absence of additional supporting data such as absence from healthy controls and/or segregation with disease, the clinical significance of this variant cann ot be determined at this time.

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.