Submissions for variant NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)

gnomAD frequency: 0.00064  dbSNP: rs70940811

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171971	SCV000050969	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037368	SCV000061025	uncertain significance	not specified	2012-01-05	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The Val1308Ile vari ant (LAMA4) has been identified in 2/46 chromosomes from an Asian population, 7/ 2334 chromosomes from the 1000 Genomes population, and 1/3738 chromosomes from a broad but clinically unspecified African American cohort (http://evs.gs.washing ton.edu/EVS, dbSNP rs70940811). Valine (Val) residue at position 1308 is not con served among mammals, suggesting that a change may be tolerated. Computational t ools (PolyPhen2, SIFT, AlignGVGD) also predict this change to be benign although their accuracy is unknown. In summary, this variant is more likely benign but additional information is needed to fully assess its clinical significance.
GeneDx	RCV000037368	SCV000250507	benign	not specified	2014-10-16	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.
Ambry Genetics	RCV000249774	SCV000319652	benign	Cardiovascular phenotype	2015-05-21	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001088170	SCV000556716	benign	Dilated cardiomyopathy 1JJ	2024-01-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170687	SCV001333281	benign	Cardiomyopathy	2018-03-23	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000171971	SCV001743675	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037368	SCV001919014	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000171971	SCV001929394	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037368	SCV001968780	benign	not specified		no assertion criteria provided	clinical testing