ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5957A>C (p.Asp1986Ala)

dbSNP: rs1064796982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481143 SCV000574278 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing The D1986A variant has not been published as pathogenic or been reported as benign to our knowledge. The D1986A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D1986A 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. Lastly, the mjority of in silico analyses (2 out of 3) predict this variant is probably damaging to the protein structure/function.

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