ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3221A>G (p.Asn1074Ser) (rs765629988)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419299 SCV000517193 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing The N1074S variant in the ABCC9 gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. The N1074S variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The N1074S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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