ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.343G>A (p.Gly115Ser) (rs397517222)

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 RCV000038755 SCV000062433 uncertain significance not specified 2012-01-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly115Ser varia nt (LDB3) has been identified in 1 individual with DCM out of >500 Caucasian pro bands (>1000 chromosomes) and was absent from 368 Caucasian and 372 Black contro l chromosomes tested by our laboratory. Glycine (Gly) at position 115 is not con served in mammals and several other mammals have a serine (Ser) at this position , increasing the likelihood that a change may be tolerated. Computational tools are mixed in the prediction of the pathogenicity of this variant (AlignGVGD & SI FT = benign, PolyPhen2 = pathogenic), though the accuracy of these tools is unkn own. Additional information is needed to fully assess the clinical significance of the Gly115Ser 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.