ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) (rs56173620)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078779 SCV000110639 benign not specified 2013-10-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224783 SCV000280940 likely benign not provided 2015-02-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics,PreventionGenetics RCV000078779 SCV000304165 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000224783 SCV000521018 benign not provided 2019-03-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20207543, 9541105, 25256590, 27535533, 29706646)
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656110 SCV000598609 uncertain significance Polymicrogyria 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development
Invitae RCV000525182 SCV000658717 benign Laminin alpha 2-related dystrophy 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152792 SCV001314024 likely benign Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-03-08 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Institute Rare Disease Group, Broad Institute RCV001258302 SCV001435250 benign Merosin deficient congenital muscular dystrophy criteria provided, single submitter research The heterozygous p.Arg1844Ser variant in LAMA2 has been reported in the compound heterozygous state, with a splice site mutation, in an individual with congenital muscular dystrophy (PMID: 20207543), but has also been identified in >1% of European (non-Finnish) chromosomes and 18 homozygotes by ExAC ( In summary, this variant meets criteria to be classified as benign for autosomal recessive congenital muscular dystrophy.
Genetic Services Laboratory, University of Chicago RCV000078779 SCV000151658 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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