ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.845C>T (p.Thr282Met)

gnomAD frequency: 0.00001  dbSNP: rs199811186
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155800 SCV000205511 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing The p.Thr282Met variant in LDB3 has been identified by our laboratory in 1 adult with DCM and atrial fibrillation, who also carried a likely pathogenic variant in a different gene. This variant has been identified in 2/10330 African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199811186). Computational prediction tools and conservation analysis sug gest that this variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of the p.Thr282Met variant is uncertain.
GeneDx RCV001770115 SCV002003144 uncertain significance not provided 2021-03-08 criteria provided, single submitter clinical testing Previously reported as T282M in a patient with left ventricular noncompaction in published literature (Hirono et al., 2020); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32183154)
Invitae RCV001850137 SCV002287510 uncertain significance Myofibrillar myopathy 4 2023-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 235 of the LDB3 protein (p.Thr235Met). This variant is present in population databases (rs199811186, gnomAD 0.01%). This missense change has been observed in individual(s) with left ventricular non-compaction (PMID: 32183154). This variant is also known as c.845C>T, p.Thr282Met. ClinVar contains an entry for this variant (Variation ID: 179020). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.