Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001351812 | SCV001546313 | uncertain significance | Myofibrillar myopathy 4 | 2023-08-22 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs754266629, gnomAD 0.02%). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.321+1325G>A in the primary transcript. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 123 of the LDB3 protein (p.Ser123Asn). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047143). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. |