ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.298_299delinsAT (p.Asp100Ile)

dbSNP: rs797044709
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
Eurofins Ntd Llc (ga) RCV000177341 SCV000229188 uncertain significance not provided 2014-05-28 criteria provided, single submitter clinical testing
Invitae RCV001322454 SCV001513327 uncertain significance Kleefstra syndrome 1 2023-07-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 196521). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces aspartic acid, which is acidic and polar, with isoleucine, which is neutral and non-polar, at codon 100 of the EHMT1 protein (p.Asp100Ile).

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.