Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825480 | SCV000966783 | uncertain significance | not specified | 2018-06-04 | criteria provided, single submitter | clinical testing | The p.Gly29322Val variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 3/17218 East Asian chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs763832653). Computational prediction tools and conservation analysis sugges t that the p.Gly29322Val variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical s ignificance of the p.Gly29322Val variant is uncertain. ACMG/AMP Criteria applied : PM2_Supporting, PP3. |