ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2749+1G>A

dbSNP: rs759555791
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000667925 SCV000891204 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390274 SCV001591952 pathogenic LAMA2-related muscular dystrophy 2024-10-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 19 of the LAMA2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964). This variant is present in population databases (rs759555791, gnomAD 0.006%). Disruption of this splice site has been observed in individual(s) with clinical features of LAMA2-related muscular dystrophy (PMID: 21922472, 24225367). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 552629). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001810470 SCV002060259 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2021-11-08 criteria provided, single submitter clinical testing NM_000426.3(LAMA2):c.2749+1G>A is a canonical splice variant classified as likely pathogenic in the context of muscular dystrophy, LAMA2-related. c.2749+1G>A has been observed in cases with relevant disease (PMID: 24225367, 21922472). Functional assessments of this variant are not available in the literature. c.2749+1G>A has been observed in population frequency databases (gnomAD: EAS 0.01%). In summary, NM_000426.3(LAMA2):c.2749+1G>A is a canonical splice variant in a gene where loss of function is a known mechanism of disease, is predicted to disrupt protein function, and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV000667925 SCV004190430 pathogenic Merosin deficient congenital muscular dystrophy 2024-02-19 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.