ClinVar Miner

Submissions for variant NM_001080116.1(LDB3):c.775C>G (p.Arg259Gly) (rs397516560)

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 RCV000036854 SCV000060509 uncertain significance not specified 2012-07-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg259Gly varia nt in LDB3 has not been previously reported in the literature and was not identi fied in large and broad populations by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS). This variant has been observed in one individual o f Ashkenazi Jewish ancestry with LVNC tested by our laboratory. Computational an alyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, a nd SIFT) suggest that the Arg259Gly variant may not impact the normal function o f the protein, though these tools are not predictive enough to rule out pathogen icity. The observed low frequency of this variant in the general population is c onsistent with a disease-causing role but insufficient to establish this with co nfidence.

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.