Submissions for variant NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)

gnomAD frequency: 0.00020  dbSNP: rs397516733

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037386	SCV000061043	uncertain significance	not specified	2014-07-21	criteria provided, single submitter	clinical testing	The Leu1611Phe variant in LAMA4 has been identified by our laboratory in 1 teena ger with DCM who carried a pathogenic variant in a different gene. It was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Leu1611Phe variant is uncertain.
Invitae	RCV000545918	SCV000654020	likely benign	Dilated cardiomyopathy 1JJ	2023-08-20	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000545918	SCV000743160	likely benign	Dilated cardiomyopathy 1JJ	2017-07-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769189	SCV000900565	benign	Cardiomyopathy	2018-07-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001551589	SCV001772124	uncertain significance	not provided	2023-05-18	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27532257, 24503780)
Ambry Genetics	RCV002336128	SCV002639205	likely benign	Cardiovascular phenotype	2019-11-12	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.
PreventionGenetics, part of Exact Sciences	RCV003944910	SCV004758292	likely benign	LAMA4-related condition	2019-11-27	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).
Clinical Genetics, Academic Medical Center	RCV001551589	SCV001925103	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001551589	SCV001955386	likely benign	not provided		no assertion criteria provided	clinical testing