ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5788G>A (p.Val1930Met)

dbSNP: rs142565774
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
GeneDx RCV001566000 SCV001789459 likely benign not provided 2020-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001566000 SCV002209560 likely benign not provided 2023-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536194 SCV004113314 uncertain significance MYH9-related disorder 2023-03-29 criteria provided, single submitter clinical testing The MYH9 c.5788G>A variant is predicted to result in the amino acid substitution p.Val1930Met. This variant was reported in an individual with pediatric dilated cardiomyopathy (Burstein et al 2021. PubMed ID: 32746448). This variant is reported in 0.028% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-36678809-C-T). Although we suspect that this variant may be benign, 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.