ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.112+1G>A (rs398123367)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790741 SCV000224218 pathogenic not provided 2014-11-23 criteria provided, single submitter clinical testing
Counsyl RCV000173130 SCV000794936 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-10-19 criteria provided, single submitter clinical testing
Invitae RCV001064438 SCV001229341 likely pathogenic Laminin alpha 2-related dystrophy 2020-08-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the LAMA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs398123367, ExAC 0.005%). This variant has been observed in combination with another LAMA2 variant in an individual affected with merosin deficient congenital muscular dystrophy (PMID: 20207543). ClinVar contains an entry for this variant (Variation ID: 92937). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.