ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) (rs373650093)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171974 SCV000055151 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037361 SCV000061018 uncertain significance not specified 2013-06-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val1052Met vari ant in LAMA4 has been identified by our laboratory in 1 Sri Lankan individual wi th HCM (LMM unpublished data) and in 1/8600 European American chromosomes by the NHLBI Exome Sequencing Project ( Valine (Val) at position 1052 is not conserved in mammals or evolutionarily distant species and one mammal (armadillo) carries a methionine (Met; this variant), suggesting that this change may be tolerated. Additional computational analyses (biochemica l amino acid properties, AlignGVGD, PolyPhen2) also suggest that this variant ma y not impact the protein, though this information is not predictive enough to ru le out pathogenicity. Although collectively this information supports that the V al1052Met variant is more likely benign, additional studies are needed to fully assess its clinical significance.
GeneDx RCV000037361 SCV000250559 benign not specified 2016-04-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000618915 SCV000736740 likely benign Cardiovascular phenotype 2017-01-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769196 SCV000900572 benign Cardiomyopathy 2018-07-30 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853002 SCV000995756 likely benign Premature ventricular contraction 2018-11-22 criteria provided, single submitter clinical testing
Invitae RCV001088319 SCV001006951 benign Dilated cardiomyopathy 1JJ 2020-09-30 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.