ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr)

gnomAD frequency: 0.00003  dbSNP: rs924634578
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824545 SCV000965446 uncertain significance Myofibrillar myopathy 4 2023-11-01 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*10610G>A in the primary transcript. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 389 of the LDB3 protein (p.Ala389Thr). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171123 SCV001333803 uncertain significance Cardiomyopathy 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV001766759 SCV001998717 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 666120; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002332724 SCV002632705 uncertain significance Cardiovascular phenotype 2022-11-17 criteria provided, single submitter clinical testing The p.A389T variant (also known as c.1165G>A), located in coding exon 8 of the LDB3 gene, results from a G to A substitution at nucleotide position 1165. The alanine at codon 389 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.