ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.11A>G (p.Gln4Arg)

gnomAD frequency: 0.00001  dbSNP: rs773960235
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000613702 SCV000712072 likely benign not specified 2016-05-21 criteria provided, single submitter clinical testing p.Gln4Arg in exon 2 of MYH9: This variant is not expected to have clinical sign ificance because although the glutamine (Gln) at position 4 is conserved in mamm als, it is not conserved in evolutionary distant species, with over 10 species ( birds, reptiles, fish) having an arginine (Arg). It has been identified in 3/85 94 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs773960235). In summary, this information indicates that this variant is likely benign.
GeneDx RCV001540673 SCV001758579 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Invitae RCV001540673 SCV002284655 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527680 SCV004104827 uncertain significance MYH9-related disorder 2022-11-30 criteria provided, single submitter clinical testing The MYH9 c.11A>G variant is predicted to result in the amino acid substitution p.Gln4Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-36745271-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004024891 SCV004943587 uncertain significance Inborn genetic diseases 2023-11-17 criteria provided, single submitter clinical testing The c.11A>G (p.Q4R) alteration is located in exon 2 (coding exon 1) of the MYH9 gene. This alteration results from a A to G substitution at nucleotide position 11, causing the glutamine (Q) at amino acid position 4 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.