Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248401 | SCV001421885 | uncertain significance | Myofibrillar myopathy 4 | 2021-12-18 | criteria provided, single submitter | clinical testing | This variant, c.399_407del, results in the deletion of 3 amino acid(s) of the LDB3 protein (p.Gly134_Pro136del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 972381). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs756150070, gnomAD 0.01%). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.321+1356_321+1364del in the primary transcript. |
Fulgent Genetics, |
RCV002484396 | SCV002787687 | uncertain significance | Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 | 2021-10-25 | criteria provided, single submitter | clinical testing |