ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) (rs397517547)

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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 RCV000040169 SCV000063860 likely pathogenic Primary dilated cardiomyopathy 2015-05-07 criteria provided, single submitter clinical testing The p.Arg1012X variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 1012, which is predicted to lead to a truncated or absent protein. Nonsense and other truncating variants in TTN are strongly associated with DCM if they are located in the exons encoding for the A -band (Herman 2012, Pugh 2014) and/or are located in an exon that is highly expr essed in the heart (Roberts 2015). The p.Arg1012X variant is located in the high ly expressed exon 18 in the near Z-disk band. In summary, although additional st udies are required to fully establish its clinical significance, the p.Arg1012X variant is likely pathogenic.
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000754723 SCV000882610 likely pathogenic Limb-girdle muscular dystrophy, type 2J 2018-10-08 criteria provided, single submitter clinical testing

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