ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)

gnomAD frequency: 0.00001  dbSNP: rs752300879
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
GeneDx RCV000197655 SCV000250600 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315604 SCV000739163 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-09-30 criteria provided, single submitter clinical testing The c.1039A>G (p.S347G) alteration is located in exon 7 (coding exon 7) of the MED12 gene. This alteration results from a A to G substitution at nucleotide position 1039, causing the serine (S) at amino acid position 347 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000766102 SCV000897581 uncertain significance X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003595889 SCV001728170 benign FG syndrome 2025-01-01 criteria provided, single submitter clinical testing

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.