ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)

gnomAD frequency: 0.00009  dbSNP: rs201843482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316814 SCV000850566 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-17 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.
Invitae RCV003596543 SCV001010363 benign FG syndrome 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001725198 SCV001960798 benign not provided 2020-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985420 SCV004763442 likely benign MED12-related disorder 2021-04-01 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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