ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=)

gnomAD frequency: 0.00078  dbSNP: rs142559688
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150903 SCV000198497 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing p.Thr794Thr in exon 19 of LAMA4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.2% (23/10358) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs142559688).
Ambry Genetics RCV000248517 SCV000319703 likely benign Cardiovascular phenotype 2015-05-27 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV000549573 SCV000654006 benign Dilated cardiomyopathy 1JJ 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001707536 SCV000727136 likely benign not provided 2019-06-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000549573 SCV001471596 likely benign Dilated cardiomyopathy 1JJ 2019-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935265 SCV004758739 likely benign LAMA4-related disorder 2019-04-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000549573 SCV000734441 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000150903 SCV001917230 benign not specified no assertion criteria provided clinical testing

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