Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001875212 | SCV002140392 | uncertain significance | Myofibrillar myopathy 4 | 2021-10-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 9 of the LDB3 gene. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to a deletion within a non-coding region in NM_001080116.1, the primary transcript. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LDB3 cause disease. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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. |