ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246907 SCV000320301 uncertain significance Cardiovascular phenotype 2018-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769198 SCV000900574 uncertain significance Cardiomyopathy 2017-03-17 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
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 2016-02-23 criteria provided, single submitter clinical testing
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.

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