ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1607T>C (p.Val536Ala) (rs727503128)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150926 SCV000198568 uncertain significance not specified 2014-01-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val536Ala varia nt in LDB3 has not been previously reported in individuals with cardiomyopathy. Data from large population studies is insufficient to assess the frequency of th is variant. Valine (Val) at position 536 is not conserved in evolution and >10 f ish species carry an alanine (Ala), supporting that this change may be tolerated . Additional computational analyses (biochemical amino acid properties, AlignGVG D, PolyPhen2, and SIFT) do not provide strong support for or against an impact t o the protein. Although the presence of the variant amino acid in other species supports that this variant is more likely benign, additional studies are needed to fully assess the clinical significance of this variant.

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.