Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171990 | SCV000050971 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000171990 | SCV000235993 | likely benign | not provided | 2021-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001324560 | SCV001515517 | uncertain significance | Myofibrillar myopathy 4 | 2022-04-17 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 116 of the LDB3 protein (p.Ala116Thr). This variant is present in population databases (rs200458194, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with LDB3-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 191696). 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. 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. |
Revvity Omics, |
RCV000171990 | SCV004236235 | uncertain significance | not provided | 2023-03-31 | criteria provided, single submitter | clinical testing |