ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1160G>A (p.Arg387His)

gnomAD frequency: 0.00002  dbSNP: rs776502547
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000266814 SCV000759917 benign Kleefstra syndrome 1 2023-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001568167 SCV001791991 likely benign not provided 2019-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524595 SCV003719183 likely benign Inborn genetic diseases 2022-03-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003422373 SCV004117762 uncertain significance EHMT1-related condition 2023-04-17 criteria provided, single submitter clinical testing The EHMT1 c.1160G>A variant is predicted to result in the amino acid substitution p.Arg387His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-140638532-G-A). 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.