ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1593G>A (p.Trp531Ter) (rs397516570)

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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 RCV000036882 SCV000060537 uncertain significance not specified 2012-08-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Trp531X var iant in ACTN2 has not been reported in the literature and has not been identifie d in large and broad populations by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS). Although this low frequency is consistent with a dise ase-causing role, it is insufficient to establish this with confidence. This non sense variant leads to a premature termination codon at position 531, which is p redicted to lead to a truncated or absent protein. While variants in ACTN2 are a ssociated with HCM (Chiu 2010), it remains unclear if a heterozygous loss of fun ction of this gene would have a role in the etiology of HCM or other cardiomyopa thies. In summary, additional information is needed to fully assess the clinical significance of the Trp531X variant.

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