ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3357T>G (p.Pro1119=)

gnomAD frequency: 0.00002  dbSNP: rs782316528
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221122 SCV000270328 likely benign not specified 2015-10-15 criteria provided, single submitter clinical testing p.Pro1112Pro in exon 25 of LAMA4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 4/66670 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).
Ambry Genetics RCV002321831 SCV002605594 likely benign Cardiovascular phenotype 2021-11-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003765372 SCV004672803 likely benign Dilated cardiomyopathy 1JJ 2023-06-06 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.