ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)

dbSNP: rs397517787
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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, Mass General Brigham Personalized Medicine RCV000040926 SCV000064617 likely pathogenic Primary dilated cardiomyopathy 2012-07-02 criteria provided, single submitter clinical testing The Gln31749X variant in TTN has not been reported in the literature nor previou sly identified by our laboratory. This variant has not been identified in large and broad populations by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS). While this low frequency is consistent with a disease causing ro le, it is insufficient to establish this with confidence. This nonsense variant leads to a premature termination codon at position 31749, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the TTN gene is strongly associated with DCM (Herman 2012). In summary, this variant is likely to be pathogenic, though additional information is needed to fully establ ish its clinical significance.

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