ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.1657C>T (p.Arg553Ter) (rs1303773212)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523102 SCV000621651 likely pathogenic not provided 2018-06-28 criteria provided, single submitter clinical testing The R553X variant in the LAMA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R553X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R553X as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000709844 SCV000840175 not provided Laminin alpha 2-related dystrophy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.