Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601574 | SCV000713843 | uncertain significance | not specified | 2018-01-22 | criteria provided, single submitter | clinical testing | The p.Pro18353Thr variant in TTN has not been previously reported in individual s with cardiomyopathy, but has been identified in 1/8732 of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, the clinical signific ance of the p.Pro18353Thr variant is uncertain. ACMG/AMP Criteria applied: PM2. |