ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4696C>T (p.Arg1566Ter)

dbSNP: rs1554325261
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Total submissions: 2
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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 RCV000608092 SCV000731407 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing The p.Arg1559X variant in LAMA4 has not been previously reported in individuals with cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 1559, which is predicted to lead to a truncated or absent protein. The pathogenic variant spectrum of LAMA4 is not well understood and it is unclear if loss of function is disease causing. As a r esult, the clinical significance of the p.Arg1559X variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002506488 SCV002814472 uncertain significance Dilated cardiomyopathy 1JJ 2021-08-11 criteria provided, single submitter clinical testing

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