ClinVar Miner

Submissions for variant NM_001393769.1(MED12L):c.701A>G (p.Glu234Gly)

gnomAD frequency: 0.00001  dbSNP: rs761030969
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
New York Genome Center RCV002266606 SCV002548629 uncertain significance Nizon-Isidor syndrome 2021-06-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418431 SCV004106796 uncertain significance MED12L-related disorder 2023-03-27 criteria provided, single submitter clinical testing The MED12L c.701A>G variant is predicted to result in the amino acid substitution p.Glu234Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0030% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-150874092-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004958522 SCV005444365 uncertain significance Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing The c.701A>G (p.E234G) alteration is located in exon 5 (coding exon 5) of the MED12L gene. This alteration results from a A to G substitution at nucleotide position 701, causing the glutamic acid (E) at amino acid position 234 to be replaced by a glycine (G). 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.