ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1252G>A (p.Ala418Thr) (rs781206225)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183230 SCV000235654 uncertain significance not provided 2016-04-22 criteria provided, single submitter clinical testing The A418T variant in the ABCC9 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. A418T is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. The A418T position is conserved across many species, and consequently, in silico analysis predicts A418T is damaging to the protein structure/function. The A418T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, mutations associated with cardiomyopathy in nearby residues have not been reported (Stenson P et al., 2009).With the clinical and molecular information available at this time, we cannot definitively determine if A418T is a disease-causing mutation or a rare benign variant. The pathogenic role for this variant would be further supported if it co-segregates independently with cardiomyopathy or Cantu syndrome in this family.

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