Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001732404 | SCV001982431 | uncertain significance | not provided | 2021-04-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Invitae | RCV002032716 | SCV002190034 | uncertain significance | Myofibrillar myopathy 4 | 2022-03-08 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1300449). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs376900496, gnomAD 0.03%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 111 of the LDB3 protein (p.Asn111Asp). 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 may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. |