ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)

gnomAD frequency: 0.00001  dbSNP: rs121913573
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
Eurofins Ntd Llc (ga) RCV000287266 SCV000342114 uncertain significance not provided 2016-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239611 SCV001412495 pathogenic LAMA2-related muscular dystrophy 2023-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LAMA2 protein function. ClinVar contains an entry for this variant (Variation ID: 14297). This missense change has been observed in individuals with congenital muscular dystrophy (PMID: 30827497, 32266982; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 862 of the LAMA2 protein (p.Cys862Arg).
Revvity Omics, Revvity RCV000287266 SCV003815834 uncertain significance not provided 2021-03-24 criteria provided, single submitter clinical testing
OMIM RCV000015367 SCV000035628 pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency 2003-02-01 no assertion criteria provided literature only

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.