ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6309_6314ACAGCA[1] (p.Gln2114_Gln2115del) (rs764789036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615285 SCV000714508 likely benign not specified 2017-05-15 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 RCV000538945 SCV000630368 uncertain significance FG syndrome 2018-12-18 criteria provided, single submitter clinical testing This sequence change deletes 6 nucleotides from exon 43 of the MED12 mRNA (c.6315_6320delACAGCA). This leads to the deletion of 2 amino acid residues in the MED12 protein (p.Gln2114_Gln2115del) but otherwise preserves the integrity of the reading frame. The frequency data for this variant (rs764789036) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a MED12-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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