Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002842980 | SCV003215488 | uncertain significance | Myofibrillar myopathy 4 | 2021-11-27 | criteria provided, single submitter | clinical testing | 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 functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.327_335delinsGAACGG, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the LDB3 protein (p.Ala110_Asp112delinsAsnGly). 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+1284_321+1292delinsGAACGG in the primary transcript. |