ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2051-1G>T (rs886042108)

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
Counsyl RCV000391266 SCV000792377 pathogenic Limb-girdle muscular dystrophy, type 2A 2017-06-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724152 SCV000331664 pathogenic not provided 2016-11-02 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000391266 SCV000844966 pathogenic Limb-girdle muscular dystrophy, type 2A 2018-09-18 no assertion criteria provided clinical testing The observed variant g.50431G>T (3'splice site) has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is damaging by MutationTaster2. The above variant was observed as compound heterozygous along with the variant c.2338G>C (p.Asp780His). The variant c.2338G>C has not been reported in 1000 Genomes and has a minor allele frequency of 0.002% in the ExAC databases. The In silico prediction of the given variant is probably damaging by PolyPhen-2 and damaging by MutationTaster2 and SIFT.
Invitae RCV000391266 SCV000766715 pathogenic Limb-girdle muscular dystrophy, type 2A 2018-01-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 18 of the CAPN3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous and/or in combination with another CAPN3 variant in many individuals affected with limb-girdle muscular dystrophy. It has been described as a founder mutation in the Agarwal community originating from northern India (PMID: 27011640, 23666804). ClinVar contains an entry for this variant (Variation ID: 281184). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). For these reasons, this variant has been classified as 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.