ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)

gnomAD frequency: 0.00046  dbSNP: rs145897390
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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 RCV000154734 SCV000204414 uncertain significance not specified 2014-11-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1775Cys va riant LAMA4 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.13% (6/4400) of African American chromosomes by th e NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs145 897390). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the c linical significance of the p.Arg1775Cys variant is uncertain, its frequency sug gests that it is more likely to be benign.
GeneDx RCV000767119 SCV000250563 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Invitae RCV001087342 SCV001131860 likely benign Dilated cardiomyopathy 1JJ 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345501 SCV002646816 likely benign Cardiovascular phenotype 2021-02-18 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154734 SCV004242103 likely benign not specified 2023-12-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000767119 SCV001924348 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000767119 SCV001928130 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000767119 SCV001951871 likely benign not provided no assertion criteria provided clinical testing

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