Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547959 | SCV000638695 | uncertain significance | Myofibrillar myopathy 4 | 2017-07-10 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with LDB3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with asparagine at codon 384 of the LDB3 protein (p.Tyr384Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. The LDB3 gene has multiple clinically relevant isoforms. The p.Tyr384Asn variant occurs in alternate transcript NM_007078.2, which corresponds to position c.*10595T>A, in NM_001080116.1, the primary transcript listed in the Methods. |