Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543839 | SCV000638672 | uncertain significance | Myofibrillar myopathy 4 | 2020-06-29 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, truncating variants in LDB3 are not necessarily pathogenic, and the clinical significance of this variant is uncertain at this time. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a LDB3-related disease. This sequence change affects a donor splice site in intron 4 of the LDB3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |