ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1586C>G (p.Pro529Arg) (rs397517217)

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 RCV000038738 SCV000062416 uncertain significance not specified 2012-01-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro529Arg varia nt (LDB3) has not been reported in the literature nor previously identified by o ur laboratory. Proline (Pro) at position 529 is not conserved in mammals or lowe r species, increasing the likelihood that a change would be tolerated. Computati onal tools are mixed in their prediction on the impact to the protein (AlignGVGD = benign, PolyPhen2 & SIFT = pathogenic), though the accuracy of these tools is unknown. The lack of conservation of this residue suggests that the Pro529Arg v ariant may be benign, but additional information is needed to fully assess its c linical significance.

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.