ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6288_6290GCA[9] (p.Gln2114_Gln2115dup) (rs766775649)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000824717 SCV000230630 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000178535 SCV000571233 likely benign not specified 2016-08-01 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.
Invitae RCV000706173 SCV000835210 uncertain significance FG syndrome 2018-12-24 criteria provided, single submitter clinical testing This variant, c.6303_6308dupGCAGCA, results in the insertion of 2 amino acid(s) to the MED12 protein (p.Gln2114_Gln2115dup), 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. ClinVar contains an entry for this variant (Variation ID: 197488). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid 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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