ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) (rs727503869)

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
Ambry Genetics RCV000619880 SCV000739128 benign Cardiovascular phenotype 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000721060 SCV000851945 benign History of neurodevelopmental disorder 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153026 SCV000202471 benign not specified 2013-12-18 criteria provided, single submitter clinical testing
Invitae RCV000551015 SCV000630369 uncertain significance FG syndrome 2018-12-07 criteria provided, single submitter clinical testing This variant, c.6321_6335delGCAGCAGCAACAGCA, results in the deletion of 5 amino acids of the MED12 protein (p.Gln2111_Gln2115del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752292446, ExAC 0.3%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with MED12-related disease. ClinVar contains an entry for this variant (Variation ID: 166877). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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.

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.