Submissions for variant NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=)

gnomAD frequency: 0.00005  dbSNP: rs782058486

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000599707	SCV000744220	likely benign	Dilated cardiomyopathy 1JJ	2015-09-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000599707	SCV001981263	benign	Dilated cardiomyopathy 1JJ	2021-08-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431832	SCV002729443	uncertain significance	Cardiovascular phenotype	2022-05-05	criteria provided, single submitter	clinical testing	The c.2193C>T variant (also known as p.T731T), located in coding exon 17 of the LAMA4 gene, results from a C to T substitution at nucleotide position 2193. This nucleotide substitution does not change the threonine at codon 731. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Invitae	RCV000599707	SCV002931439	likely benign	Dilated cardiomyopathy 1JJ	2024-01-20	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000599707	SCV000734445	likely benign	Dilated cardiomyopathy 1JJ		no assertion criteria provided	clinical testing