ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6241_6243CAG[7] (p.Gln2086dup) (rs786200971)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153025 SCV000202470 benign not specified 2014-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000153025 SCV000566506 likely benign not specified 2017-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000461504 SCV000845457 uncertain significance FG syndrome 2018-08-07 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000153025 SCV000864288 likely benign not specified 2017-11-15 criteria provided, single submitter clinical testing BS2, BP3; This alteration was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and is an in-frame deletion/insertion in a repetitive region without a known function.
Invitae RCV000461504 SCV000548703 uncertain significance FG syndrome 2018-10-23 criteria provided, single submitter clinical testing This variant, c.6256_6258dupCAG, results in the insertion of 1 amino acid(s) to the MED12 protein (p.Gln2086dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MED12-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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