Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000612144 | SCV000712289 | uncertain significance | not specified | 2016-06-24 | criteria provided, single submitter | clinical testing | The p.Ile154Val variant in TPM1 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Ile154Val var iant is uncertain. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000627135 | SCV000747949 | likely pathogenic | Primary familial hypertrophic cardiomyopathy | 2017-07-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001066540 | SCV001231554 | uncertain significance | Hypertrophic cardiomyopathy | 2023-05-10 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 505158). This variant has not been reported in the literature in individuals affected with TPM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 154 of the TPM1 protein (p.Ile154Val). |
CHEO Genetics Diagnostic Laboratory, |
RCV001798917 | SCV002042868 | uncertain significance | Cardiomyopathy | 2020-07-03 | criteria provided, single submitter | clinical testing |