ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) (rs183262122)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767116 SCV000250534 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing p.Leu1011Phe (TTG>TTT): c.3033 G>T in exon 23 of the LAMA4 gene (NM_002290.3).The Leu1011Phe variant in the LAMA4 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although Leu1011Phe results in a conservative amino acid substitution of one non-polar amino acid for another, this substitution occurs at a position that is well conserved across species. In silico analysis predicts Leu1011Phe is damaging to the protein structure/function.The Leu1011Phe variant was observed at a low frequency in the 1000 genomes database (3/2100 alleles or 0.1%) and in dbSNP (3/13006 alleles or 0.02%). With the clinical and molecular information available at this time, we cannot definitively determine if Leu1011Phe is a disease-causing mutation or a rare benign variant.This variant was found in CARDIOMYOPATHY
Invitae RCV000225909 SCV000287328 likely benign Dilated cardiomyopathy 1JJ 2020-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246907 SCV000320301 benign Cardiovascular phenotype 2019-03-26 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Laboratory for Molecular Medicine,Partners HealthCare 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

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