ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.505C>T (p.Arg169Ter) (rs397516469)

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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 RCV000036594 SCV000060249 uncertain significance not specified 2017-06-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg159X v ariant in TNNT2 has been identified by our laboratory in 1 African American indi vidual with DCM and LVNC. This variant has been identified in 1/10404 African Am erican chromosomes and 1/66734 European chromosomes by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516469). This nonsense variant leads to a premature termination codon at position 159, which is predic ted to lead to a truncated or absent protein. Truncating variants in TNNT2 have been reported to cause disease but are rare and their significance has not been well established. In summary, while there is some suspicion for a pathogenic rol e, the clinical significance of the p.Arg159X variant is uncertain.

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