Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222717 | SCV000272748 | uncertain significance | not specified | 2015-08-12 | criteria provided, single submitter | clinical testing | The p.Val21764Phe variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Val21764Phe variant is uncertain. |
Illumina Laboratory Services, |
RCV001270749 | SCV001451498 | uncertain significance | Dilated cardiomyopathy 1G | 2019-03-20 | criteria provided, single submitter | clinical testing | The TTN c.72994G>T (p.Val24332Phe) variant is a missense variant. A literature search was performed for the gene, cDNA, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database. Based on the limited evidence, the p.Val24332Phe variant is classified as a variant of uncertain significance for dilated cardiomyopathy, dominant. |