ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.418C>G (p.Pro140Ala)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002327768 SCV002627011 uncertain significance Cardiovascular phenotype 2021-12-16 criteria provided, single submitter clinical testing The p.P140A variant (also known as c.418C>G), located in coding exon 4 of the LDB3 gene, results from a C to G substitution at nucleotide position 418. The proline at codon 140 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003102535 SCV003509725 likely benign Myofibrillar myopathy 4 2022-03-04 criteria provided, single submitter clinical testing

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.