ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1708G>A (p.Gly570Arg) (rs373132971)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413255 SCV000491698 uncertain significance not specified 2016-11-15 criteria provided, single submitter clinical testing The G570R variant of uncertain significance in the ACTN2 gene has not been published as a pathogenic or benign variant to our knowledge. This variant was not observed with any significant frequency in either 8,600 alleles from individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or approximately 16,500 alleles from individuals of South Asian ancestry in the Exome Aggregation Consortium. The G570R 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 also occurs at a position that is conserved in mammals. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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