ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)

gnomAD frequency: 0.00022  dbSNP: rs141235562
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000527012 SCV000658711 benign LAMA2-related muscular dystrophy 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764629 SCV000895737 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2022-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002526747 SCV003527654 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.5405G>T (p.R1802L) alteration is located in exon 37 (coding exon 37) of the LAMA2 gene. This alteration results from a G to T substitution at nucleotide position 5405, causing the arginine (R) at amino acid position 1802 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003133364 SCV003816357 uncertain significance not provided 2022-01-27 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.