Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996106 | SCV001150582 | uncertain significance | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001184583 | SCV001350605 | likely benign | Cardiomyopathy | 2018-11-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003769352 | SCV004571839 | uncertain significance | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 69 of the TNNT2 protein (p.Ser69Leu). This variant is present in population databases (rs761953142, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TNNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 807899). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |