ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.958G>A (p.Val320Met)

gnomAD frequency: 0.00003  dbSNP: rs778847250
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338895 SCV001532600 uncertain significance not provided 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 320 of the LMX1B protein (p.Val320Met). This variant is present in population databases (rs778847250, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LMX1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1035953). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LMX1B protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003333157 SCV004040861 uncertain significance Nail-patella-like renal disease 2023-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333156 SCV004041037 uncertain significance Nail-patella syndrome 2023-02-01 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.