Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Klaassen Lab, |
RCV000853181 | SCV000995896 | uncertain significance | Left ventricular noncompaction cardiomyopathy | 2019-07-03 | criteria provided, single submitter | research | |
Invitae | RCV001225141 | SCV001397380 | uncertain significance | Myofibrillar myopathy 4 | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 213 of the LDB3 protein (p.Ala213Thr). This variant is present in population databases (rs777637914, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 691843). 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 tolerated. 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. |