ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) (rs863223696)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622415 SCV000742505 uncertain significance Inborn genetic diseases 2017-05-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneDx RCV000195723 SCV000250593 pathogenic not provided 2018-10-18 criteria provided, single submitter clinical testing The A1383T variant in the MED12 gene has been reported previously as a pathogenic variant in two male siblings with microcephaly, dysmorphic features, failure to thrive, developmental delay, increased muscle tone, and chordee (Langely et al., 2015). The A1383T variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A1383T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A1383T as a pathogenic variant.
GeneReviews RCV000239402 SCV000297771 pathogenic FG syndrome 2016-08-11 no assertion criteria provided literature only

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