Submissions for variant NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)

gnomAD frequency: 0.00018  dbSNP: rs587778437

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003595865	SCV000288800	likely benign	FG syndrome	2023-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001697144	SCV000725242	likely benign	not provided	2021-06-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30006928)
CeGaT Center for Human Genetics Tuebingen	RCV001697144	SCV002546180	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	MED12: PP2, BP4, BS1
Ambry Genetics	RCV002321600	SCV002627101	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-08-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics	RCV002492431	SCV002801057	likely benign	X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type	2021-12-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985274	SCV004758661	likely benign	MED12-related disorder	2022-07-15	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).
ITMI	RCV000121329	SCV000085502	not provided	not specified	2013-09-19	no assertion provided	reference population
GeneReviews	RCV000228384	SCV001809996	not provided	FG syndrome 1		no assertion provided	literature only	Reported in a male with nonspecific intellectual disability
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001697144	SCV001953823	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001697144	SCV001966193	likely benign	not provided		no assertion criteria provided	clinical testing