Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV003224700 | SCV003920145 | uncertain significance | Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 | 2021-03-30 | criteria provided, single submitter | clinical testing | LDB3 NM_007078.2 exon 4 p.Pro130_Gly131insArgHisPro (c.387_388insCCCAGGCAC): This variant has not been reported in the literature and data from large control databases is insufficient for this variant. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame insertion of 3 amino acids at position 130 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |