ClinVar Miner

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

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Total submissions: 7
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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 The Val1052Met vari ant in LAMA4 has been identified by our laboratory in 1 Sri Lankan individual wi th HCM (LMM unpublished data) and in 1/8600 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). 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

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