Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769284 | SCV000900662 | uncertain significance | Cardiomyopathy | 2016-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001242694 | SCV001415797 | uncertain significance | Myofibrillar myopathy 4 | 2023-11-19 | criteria provided, single submitter | clinical testing | The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.2, and corresponds to NM_001080116.1:c.*7278G>C, in the primary transcript. This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 340 of the LDB3 protein (p.Ala340Pro). This variant is present in population databases (rs755329877, gnomAD 0.005%). This missense change has been observed in individual(s) with idiopathic ventricular fibrillation and left ventricular noncompaction and Fabry disease (PMID: 21952291, 29032884). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Ambry Genetics | RCV004027219 | SCV005025576 | likely benign | Cardiovascular phenotype | 2024-03-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |