ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60399del (p.Ser20134fs) (rs727504466)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155591 SCV000205299 likely pathogenic Primary dilated cardiomyopathy 2015-03-11 criteria provided, single submitter clinical testing The p.Ser17566fs variant in TTN has been identified by our laboratory in 1 Cauca sian adult with DCM and segregated with disease in 2 affected relatives. It was absent from large population studies. This variant is predicted to cause a frame shift, which alters the protein?s amino acid sequence beginning at position 1756 6 and leads to a premature termination codon 9 amino acids downstream. This alte ration is then predicted to lead to a truncated or absent protein. Frameshift an d other truncating variants in TTN are strongly associated with DCM, particularl y if they are located in the exons encoding for the A-band region of the protein (Herman 2012, Pugh 2014), where this variant is located. In summary, although a dditional studies are required to fully establish its clinical significance, the p.Ser17566fs variant is likely pathogenic.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768972 SCV000900345 likely pathogenic Cardiomyopathy 2015-12-03 criteria provided, single submitter clinical testing

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