Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223512 | SCV000272708 | uncertain significance | not specified | 2015-03-27 | criteria provided, single submitter | clinical testing | The p.Pro17440Leu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/8402 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199839492). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Pro17440Leu variant is uncertain. |