Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003098890 | SCV003482273 | uncertain significance | Myofibrillar myopathy 4 | 2022-09-27 | criteria provided, single submitter | clinical testing | Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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 effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This sequence change falls in intron 9 of the LDB3 gene. It does not directly change the encoded amino acid sequence of the LDB3 protein. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*16947_*16948delinsGG in the primary transcript. |