ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)

gnomAD frequency: 0.00040  dbSNP: rs183262122
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767116 SCV000250534 likely benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Invitae RCV000225909 SCV000287328 likely benign Dilated cardiomyopathy 1JJ 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246907 SCV000320301 benign Cardiovascular phenotype 2019-03-26 criteria provided, single submitter clinical testing This alteration is classified as 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000197877 SCV000710910 benign not specified 2018-06-06 criteria provided, single submitter clinical testing p.Leu1011Phe in exon 23 of LAMA4: This variant is not expected to have clinical significance because it has been identified in 0.24% (61/25790) of Finnish chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs183262122). ACMG/AMP Criteria applied: BA1.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769198 SCV000900574 uncertain significance Cardiomyopathy 2017-03-17 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000769198 SCV000995757 likely benign Cardiomyopathy 2018-03-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000225909 SCV000734437 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000767116 SCV001971405 likely benign not provided no assertion criteria provided clinical testing

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