ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1839+5G>C (rs797045081)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190565 SCV000245572 uncertain significance not specified 2015-10-27 criteria provided, single submitter clinical testing The c.1839+5G>C variant in ACTN2 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the 5' splice region. Computational tools do suggest some impact to splicing. Ho wever, this information is not predictive enough to determine pathogenicity. Whi le variants in ACTN2 are associated with HCM (Chiu 2010), it remains unclear if heterozygous loss of function variants in this gene would have a role in the eti ology of HCM as all reported pathogenic variants have been missense changes. In summary, the clinical significance of the 1839+5G>C variant is uncertain.

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