ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg) (rs121913573)

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 RCV000287266 SCV000342114 uncertain significance not provided 2016-05-27 criteria provided, single submitter clinical testing
Invitae RCV001239611 SCV001412495 uncertain significance Laminin alpha 2-related dystrophy 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 862 of the LAMA2 protein (p.Cys862Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with congenital muscular dystrophy (PMID: 12552556, 30827497). ClinVar contains an entry for this variant (Variation ID: 14297). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
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.