ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.*3C>T (rs1131691800)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493142 SCV000582876 uncertain significance not specified 2017-05-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ACTN2 gene. The c.*3 C>T variant has not been published as a pathogenic variant or been reported as benign to our knowledge. This single nucleotide substitution is located at a position that is conserved through mammals. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Finally, no variants in the regulatory region of the ACTN2 gene have been reported in association with cardiomyopathy in HGMD (Stenson et al., 2014).

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