ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.641G>A (p.Arg214His)

gnomAD frequency: 0.00044  dbSNP: rs139146419
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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 RCV000172554 SCV000050970 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154742 SCV000204422 likely benign not specified 2014-04-09 criteria provided, single submitter clinical testing Arg214His in exon 6 of LAMA4: This variant is not expected to have clinical sign ificance because it has been identified in 1.4% (8/572) of Asian chromosomes by the 1000 Genomes Project (dbSNP rs139146419). This is also supported by the lac k of evolutionary conservation of the affected amino acid (of note, gorilla and several bird and frog species have a histidine (His) at this position).
GeneDx RCV000154742 SCV000250516 benign not specified 2016-09-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088178 SCV000556727 benign Dilated cardiomyopathy 1JJ 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620853 SCV000736492 benign Cardiovascular phenotype 2015-10-02 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769204 SCV000900580 likely benign Cardiomyopathy 2017-07-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154742 SCV004038033 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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