Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221499 | SCV000272579 | uncertain significance | not specified | 2015-06-25 | criteria provided, single submitter | clinical testing | The p.Tyr350Cys variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/16512 South Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs563369722). 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.Tyr350Cys variant is uncertain. |