Submissions for variant NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)

gnomAD frequency: 0.00078  dbSNP: rs150069819

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724815	SCV000229700	uncertain significance	not provided	2015-05-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000223049	SCV000250509	benign	not specified	2015-01-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223049	SCV000270334	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Arg1553Arg in exon 34 of LAMA4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.2% (8/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs150069819).
Ambry Genetics	RCV000249058	SCV000319998	likely benign	Cardiovascular phenotype	2015-07-01	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.
Invitae	RCV000557106	SCV000654018	benign	Dilated cardiomyopathy 1JJ	2023-12-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000557106	SCV001472421	benign	Dilated cardiomyopathy 1JJ	2019-11-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003895196	SCV004724204	likely benign	LAMA4-related condition	2019-06-18	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).