ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99866-1G>A

dbSNP: rs876657672
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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 RCV000222308 SCV000271288 likely pathogenic Primary dilated cardiomyopathy 2015-08-13 criteria provided, single submitter clinical testing The c.92162-1G>A variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant occurs in the i nvariant region (+/- 1,2) of the splice consensus sequence and is predicted to c ause altered splicing leading to an abnormal or absent protein. Splice and other truncating variants in TTN are strongly associated with DCM if they are located in the exons encoding for the A-band region (exons 201-306) of the protein (Her man 2012, Pugh 2014), where this variant is located. In summary, although additi onal studies are required to fully establish its clinical significance, the c.92 162-1G>A variant is likely pathogenic.

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