ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.2049_2050delAG (rs202247790)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078754 SCV000226026 pathogenic not provided 2013-11-08 criteria provided, single submitter clinical testing
Center for Genetic Medicine Research,Children's National Medical Center RCV000230453 SCV000265783 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
GeneDx RCV000078754 SCV000583109 pathogenic not provided 2021-07-28 criteria provided, single submitter clinical testing Observed multiple times with a pathogenic variant in unrelated individuals with merosin-deficient congenital muscular dystrophy (Guicheney et al., 1998; Yang et al., 2015; Xiong et al., 2015); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31404137, 24611677, 18700894, 25663498, 28877744, 28804634, 28133863, 27854218, 27886618, 9541105, 25544356)
Invitae RCV000557045 SCV000658642 pathogenic Laminin alpha 2-related dystrophy 2020-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg683Serfs*21) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs751627052, ExAC 0.01%). This variant has been reported in the literature in multiple individuals affected with congenital muscular dystrophy (PMID: 9541105, 25544356, 18700894, 24611677). This variant is also known in the literature as 2098delAG and p.Lys682Lysfs*22. ClinVar contains entries for this variant (Variation ID: 38340, 216956). Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000031899 SCV001137216 pathogenic Merosin deficient congenital muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000078754 SCV001247102 pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000031899 SCV001367802 likely pathogenic Merosin deficient congenital muscular dystrophy 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2.
Breda Genetics srl RCV000031899 SCV001738808 pathogenic Merosin deficient congenital muscular dystrophy 2019-03-13 criteria provided, single submitter clinical testing The variant c.2045_2046delAG (p.Arg683Serfs*21) in the LAMA2 gene is reported as pathogenic for merosin deficient congenital muscular dystrophy in ClinVar (Variation ID: 38340) and as effect unknown in the Whole Genome datasets LAMA2 LOVD database v.3.0 (genomic variant: #0000691061). This variant creates a shift in the reading frame which is predicted to result in a premature stop codon 21 amino acids downstream and is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). The variant is reported with an estimated allele frequency of 0.0001 in gnomAD exomes, 0.0001 in gnomAD genomes and 0.0002 in NHLI Exome Sequencing Project (ESP), with no homozygous individuals reported. This variant – also known in the literature as c.2049_2050del or Lys682LysfsX22 – is one of the most frequently reported pathogenic variant in the LAMA2 gene, being identified in several individuals affected by congenital muscular dystrophy (e.g. PMIDs: 9541105, 27854218, 25544356, 30055037).
GeneReviews RCV000031899 SCV000054523 pathologic Merosin deficient congenital muscular dystrophy 2012-06-07 no assertion criteria provided curation Converted during submission to Pathogenic.
Counsyl RCV000031899 SCV001132421 pathogenic Merosin deficient congenital muscular dystrophy 2017-01-03 no assertion criteria provided clinical testing

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