Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000639886 | SCV000761470 | uncertain significance | Myofibrillar myopathy 4 | 2017-12-14 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-8 of the LDB3 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 8 of the LDB3 gene. This is expected to result in an absent or disrupted protein product. The deletion of exons 1-8 has not been reported in the literature in individuals with LDB3-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LDB3 cause disease. 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. |