ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) (rs876657670)

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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 RCV000213508 SCV000271283 likely pathogenic Primary dilated cardiomyopathy 2015-05-06 criteria provided, single submitter clinical testing The p.Glu25936X variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. This nonsense variant leads t o a premature termination codon at position 25936, which is predicted to lead to a truncated or absent protein. Nonsense and other truncating variants in TTN ar e strongly associated with DCM, particularly if they are located in the exons en coding for the A-band (Herman 2012, Pugh 2014) and/or are located in an exon tha t is highly expressed in the heart (Roberts 2015). The p.Glu25936X variant is lo cated in the A-band in the highly expressed exon 275. In summary, although addit ional studies are required to fully establish its clinical significance, the p.G lu25936X variant is likely pathogenic.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769913 SCV000901339 likely pathogenic Cardiomyopathy 2016-05-24 criteria provided, single submitter clinical testing

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