Submissions for variant NM_001105206.3(LAMA4):c.486T>C (p.Ala162=)

gnomAD frequency: 0.00001  dbSNP: rs397516734

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037387	SCV000061044	likely benign	not specified	2013-01-23	criteria provided, single submitter	clinical testing	Ala162Ala in exon 5 of LAMA4: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Ala162Ala in exon 5 of LAMA4 (allele frequenc y = n/a)
Ambry Genetics	RCV000617194	SCV000736742	likely benign	Cardiovascular phenotype	2017-01-05	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769209	SCV000900585	benign	Cardiomyopathy	2018-07-30	criteria provided, single submitter	clinical testing
Invitae	RCV000865924	SCV001006952	benign	Dilated cardiomyopathy 1JJ	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037387	SCV001918288	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727528	SCV001969559	likely benign	not provided		no assertion criteria provided	clinical testing