ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1425G>C (p.Glu475Asp)

dbSNP: rs397516755
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037442 SCV000061100 uncertain significance not specified 2012-01-13 criteria provided, single submitter clinical testing The Glu475Asp variant (MYH6) has not been reported in the literature nor previou sly identified by our laboratory. Glutamic acid (Glu) at this position in conse rved across evolutionarily distant species, suggesting that a change may not be tolerated. Computational analysis (AlignGVGD, SIFT, PolyPhen2) suggest that thi s change may impact protein function; however, the accuracy of these tools is un known. In summary, additional information is needed to determine the clinical s ignificance of this variant.
PreventionGenetics, part of Exact Sciences RCV003415773 SCV004107654 uncertain significance MYH6-related condition 2023-05-23 criteria provided, single submitter clinical testing The MYH6 c.1425G>C variant is predicted to result in the amino acid substitution p.Glu475Asp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.