ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) (rs17592)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078098 SCV000109936 benign not specified 2013-03-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078098 SCV000301888 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260072 SCV000390994 likely benign Limb-girdle muscular dystrophy, type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000317357 SCV000390995 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078098 SCV000520877 benign not specified 2016-07-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000260072 SCV000645502 benign Limb-girdle muscular dystrophy, type 2A 2020-12-04 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000260072 SCV000803458 benign Limb-girdle muscular dystrophy, type 2A 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Muscular dystrophy, limb-girdle, type 2a, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Mendelics RCV000260072 SCV001139557 benign Limb-girdle muscular dystrophy, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078098 SCV000150498 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV000260072 SCV001461305 benign Limb-girdle muscular dystrophy, type 2A 2020-09-16 no assertion criteria provided 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.