Submissions for variant NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)

dbSNP: rs2147829625

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003762121	SCV002291836	uncertain significance	FG syndrome	2021-07-08	criteria provided, single submitter	clinical testing	Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MED12 protein function. This sequence change replaces arginine with cysteine at codon 1912 of the MED12 protein (p.Arg1912Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MED12-related conditions. 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.
Revvity Omics, Revvity	RCV003134343	SCV003810874	uncertain significance	not provided	2023-11-02	criteria provided, single submitter	clinical testing