ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3691+4C>T (rs373381746)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476695 SCV000548705 uncertain significance FG syndrome 1 2019-07-20 criteria provided, single submitter clinical testing This sequence change falls in intron 26 of the MED12 gene. It does not directly change the encoded amino acid sequence of the MED12 protein. This variant is present in population databases (rs373381746, ExAC 0.01%) but has not been reported in the literature in individuals with a MED12-related disease. ClinVar contains an entry for this variant (Variation ID: 408884). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
GeneDx RCV000610539 SCV000728738 benign not specified 2017-03-06 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.

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