ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3575C>A (p.Thr1192Asn) (rs1475546623)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522889 SCV000621385 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing The T1192N variant has not beenpublished as pathogenic or been reported as benign to our knowledge. In addition, it is not observed at a significantfrequency in large population cohorts (Lek et al., 2016). The T1192N variant is a conservative amino acidsubstitution, which is not likely to impact secondary protein structure as these residues share similar properties.Furthermore, this substitution occurs at a position that is not conserved across species, and in silico analysis predictsthis variant likely does not alter the protein structure/function.

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