ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1723A>C (p.Ile575Leu) (rs756815410)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183263 SCV000235689 uncertain significance not specified 2014-05-15 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the ACTN2 gene. The I575L variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The I575L 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. A missense mutation in a nearby residue (E583A) has been reported in association with HCM, supporting the functional importance of this region of the protein. The I575L 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 that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The variant is found in CARDIOMYOPATHY panel(s).

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