Submissions for variant NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)

gnomAD frequency: 0.00051  dbSNP: rs202184174

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172549	SCV000055153	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000600227	SCV000744218	uncertain significance	Dilated cardiomyopathy 1JJ	2017-05-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000600227	SCV000943249	likely benign	Dilated cardiomyopathy 1JJ	2025-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000172549	SCV001872905	uncertain significance	not provided	2025-01-21	criteria provided, single submitter	clinical testing	Reported in an African American patient with Wolff-Parkinson-White, left ventricular non-compaction cardiomyopathy and a ventricular septal defect (PMID: 32233023); Also reported in one individual from a cohort of individuals not selected for cardiomyopathy, arrhythmia, or family history of sudden cardiac death, who underwent exome sequencing (PMID: 23861362); 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: 32233023, 23861362)
Ambry Genetics	RCV002453602	SCV002735913	likely benign	Cardiovascular phenotype	2023-01-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000656168	SCV000678362	uncertain significance	Wolff-Parkinson-White pattern	2017-07-14	no assertion criteria provided	research	This variant was identified in an individual with Wolff-Parkinson-White syndrome
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600227	SCV000734442	uncertain significance	Dilated cardiomyopathy 1JJ		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000172549	SCV001920205	uncertain significance	not provided		no assertion criteria provided	clinical testing