Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825482 | SCV000966785 | uncertain significance | not specified | 2018-06-14 | criteria provided, single submitter | clinical testing | The p.Lys15726Asn variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/106568 European chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Co mputational prediction tools and conservation analysis do not provide strong sup port for or against an impact to the protein. In summary, the clinical significa nce of the p.Lys15726Asn variant is uncertain. ACMG/AMP Criteria applied: PM2. |