ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.109A>G (p.Lys37Glu) (rs752156538)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170644 SCV000223196 uncertain significance not provided 2014-04-29 criteria provided, single submitter clinical testing p.Lys37Glu (AAA>GAA): c.109 A>G in exon 2 of the AKAP9 gene (NM_005751.4). The K37E variant has not been published as a mutation or been reported as a benign polymorphism to our knowledge.The K37E 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported in association with arrhythmia, and data from control individuals were not available to assess whether K37E may be a common benign variant in the general population. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).

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