ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3381G>T (p.Ser1127=)

gnomAD frequency: 0.00003  dbSNP: rs369946933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003771562 SCV001717102 benign FG syndrome 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458495 SCV002618271 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-23 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 RCV003985504 SCV004742423 likely benign MED12-related disorder 2019-09-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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