ClinVar Genomic variation as it relates to human health
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
Variation ID: 166790 Accession: VCV000166790.55
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 15q15.1 15: 42401754 (GRCh38) [ NCBI UCSC ] 15: 42693952 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Sep 14, 2015 Apr 15, 2024 Jan 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000070.3:c.1468C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000061.1:p.Arg490Trp missense NM_024344.2:c.1468C>T NP_077320.1:p.Arg490Trp missense NM_173087.2:c.1324C>T NP_775110.1:p.Arg442Trp missense NC_000015.10:g.42401754C>T NC_000015.9:g.42693952C>T NG_008660.1:g.58652C>T LRG_849:g.58652C>T LRG_849t1:c.1468C>T LRG_849p1:p.Arg490Trp P20807:p.Arg490Trp - Protein change
- R490W, R442W
- Other names
- NM_000070.2(CAPN3):c.1468C>T(p.Arg490Trp)
- NM_024344.1(CAPN3):c.1468C>T(p.Arg490Trp)
- NM_173087.1(CAPN3):c.1324C>T(p.Arg442Trp)
- Canonical SPDI
- NC_000015.10:42401753:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00020 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00008
Exome Aggregation Consortium (ExAC) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00013
The Genome Aggregation Database (gnomAD) 0.00015
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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CAPN3 | - | - |
GRCh38 GRCh37 |
1700 | 1839 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Sep 13, 2023 | RCV000152924.41 | |
Pathogenic/Likely pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Jan 29, 2024 | RCV000173975.28 | |
Pathogenic (2) |
criteria provided, single submitter
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Feb 9, 2022 | RCV000762950.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 11, 2019 | RCV001332159.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 5, 2022 | RCV001813761.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 20, 2023 | RCV003407573.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 16, 2024 | RCV003987377.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jul 08, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Limb-girdle muscular dystrophy, type 2A
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Study: CSER-MedSeq
Accession: SCV000245587.1 First in ClinVar: Sep 14, 2015 Last updated: Sep 14, 2015 |
Comment:
The p.Arg490Trp variant in CAPN3 has been reported in over 35 individuals with calpainopathy (LOVD Leiden Muscular Dystrophy database) in the homozygous and compound heterozygous … (more)
The p.Arg490Trp variant in CAPN3 has been reported in over 35 individuals with calpainopathy (LOVD Leiden Muscular Dystrophy database) in the homozygous and compound heterozygous state. Although this variant has been identified in 0.023% (1/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs141656719), its frequency is not high enough to rule out a pathogenic role. In summary, this variant meets our criteria to be classified as pathogenic based upon common observation in diseased individuals in the compound heterozygous state (http://pcpgm.partners.org/LMM). (less)
Number of individuals with the variant: 1
|
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Likely pathogenic
(Dec 28, 2016)
|
criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2A
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000789054.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
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Pathogenic
(May 31, 2018)
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criteria provided, single submitter
Method: curation
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Autosomal recessive limb-girdle muscular dystrophy type 2A
Affected status: unknown
Allele origin:
unknown
|
SIB Swiss Institute of Bioinformatics
Accession: SCV000803515.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Comment:
This variant is interpreted as a Pathogenic, for Muscular dystrophy, limb-girdle, type 2A, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: PM2 => … (more)
This variant is interpreted as a Pathogenic, for Muscular dystrophy, limb-girdle, type 2A, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:17157502) (PMID:15221789). PS3 => Well-established functional studies show a deleterious effect (PMID:14578192,9642272). PM5 => Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. (less)
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893374.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Aug 08, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000225191.5
First in ClinVar: Jun 28, 2015 Last updated: Jul 30, 2019 |
Number of individuals with the variant: 29
Sex: mixed
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2A
Affected status: unknown
Allele origin:
germline
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Baylor Genetics
Accession: SCV001163395.1
First in ClinVar: Feb 28, 2020 Last updated: Feb 28, 2020 |
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Pathogenic
(Jun 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics
Accession: SCV000841332.2
First in ClinVar: Oct 19, 2018 Last updated: Jan 26, 2021 |
Comment:
The frequency of this variant in the general population is consistent with pathogenicity. Conflicting predictions of the effect on the protein. One other pathogenic or … (more)
The frequency of this variant in the general population is consistent with pathogenicity. Conflicting predictions of the effect on the protein. One other pathogenic or likely pathogenic variant affects the same amino acid. This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. Assessment of experimental evidence suggests this variant results in abnormal protein function. (less)
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Pathogenic
(Feb 11, 2019)
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criteria provided, single submitter
Method: clinical testing
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Muscular dystrophy, limb-girdle, autosomal dominant 4
Affected status: yes
Allele origin:
paternal
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Baylor Genetics
Accession: SCV001524378.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
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Pathogenic
(Jan 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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CAPN3-Related Disorders
Affected status: yes
Allele origin:
germline
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DASA
Accession: SCV002061184.1
First in ClinVar: Jan 22, 2022 Last updated: Jan 22, 2022 |
Comment:
The c.1468C>T;p.(Arg490Trp) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 166790; PMID: 25135358; 26632398; 27055500; … (more)
The c.1468C>T;p.(Arg490Trp) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 166790; PMID: 25135358; 26632398; 27055500; 30028523) - PS4.The variant is present at low allele frequencies population databases (rs141656719 – gnomAD 0.001315%; ABraOM 0.000427 frequency - http://abraom.ib.usp.br/) - PM2_supporting. The p.(Arg490Trp) was detected in trans with a pathogenic variant (PMID: 25135358; 26632398; 27055500; 30028523) - PM3_strong. Pathogenic missense variant in this residue have been reported Clinvar ID: 17622) - PM5. The variant co-segregated with disease in multiple affected family members (PMID: 26632398) - PP1. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is pathogenic. (less)
Number of individuals with the variant: 1
Sex: male
Geographic origin: Brazil
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Pathogenic
(Sep 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2A
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002580248.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PS1, PM1, PM3, PM2_SUP, PP1, PP2, PP3
|
Number of individuals with the variant: 1
Sex: female
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Pathogenic
(Feb 09, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000611184.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 31, 2022 |
|
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Pathogenic
(Jun 24, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000329668.7
First in ClinVar: Dec 06, 2016 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a damaging effect as R490W impairs the autocatalytic activity of the protein, slowing protein degradation as compared to controls (Fanin et … (more)
Published functional studies demonstrate a damaging effect as R490W impairs the autocatalytic activity of the protein, slowing protein degradation as compared to controls (Fanin et al., 2003); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20635405, 16971480, 15351423, 15221789, 12461690, 9150160, 31862442, 19226146, 17157502, 17994539, 16372320, 7720071, 21204801, 22995991, 9642272, 16627476, 26632398, 27500519, 30028523, 30919934, 18055493, 27535533, 14578192, 31589614, 25214167, 32528171) (less)
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Pathogenic
(Feb 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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CAPN3-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004114557.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The CAPN3 c.1468C>T variant is predicted to result in the amino acid substitution p.Arg490Trp. This variant has been repeatedly reported in the compound heterozygous or … (more)
The CAPN3 c.1468C>T variant is predicted to result in the amino acid substitution p.Arg490Trp. This variant has been repeatedly reported in the compound heterozygous or homozygous state in individuals with limb-girdle muscular dystrophy (Gene referred to as CANP3 in Richard et al. 1995. PubMed ID: 7720071; Fanin et al. 2003. PubMed ID: 14578192; Krahn et al. 2011. PubMed ID: 21204801; Savarese et al. 2014. PubMed ID: 25214167; https://databases.lovd.nl/shared/genes/CAPN3). Functional studies indicate this variant disrupts the normal autocatalytic activity (Fanin et al. 2003. PubMed ID: 14578192). This variant is reported in 0.032% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-42693952-C-T). This variant is interpreted as pathogenic. (less)
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Pathogenic
(Sep 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002016919.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
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Likely pathogenic
(Sep 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
Additional submitter:
CUBI - Core Unit Bioinformatics, Berlin Institute of Health
Accession: SCV002574846.1
First in ClinVar: Sep 24, 2022 Last updated: Sep 24, 2022 |
Clinical Features:
Tetraparesis (present) , Shoulder girdle muscle weakness (present) , Pelvic girdle muscle weakness (present) , Progressive proximal muscle weakness (present)
Sex: female
Tissue: Blood
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Pathogenic
(Jan 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2A
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000766726.8
First in ClinVar: Dec 06, 2016 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 490 of the CAPN3 protein … (more)
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 490 of the CAPN3 protein (p.Arg490Trp). This variant is present in population databases (rs141656719, gnomAD 0.03%). This missense change has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (LGMD) 2A (PMID: 7720071, 14578192, 15221789, 16372320, 16971480, 17157502, 17994539, 18055493, 18563459, 18854869, 19015733, 21204801, 25135358, 25252031, 26632398, 27055500). ClinVar contains an entry for this variant (Variation ID: 166790). 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) performed at Invitae indicates that this missense variant is expected to disrupt CAPN3 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects CAPN3 function (PMID: 14578192, 16971480, 19226146). This variant disrupts the p.Arg409 amino acid residue in CAPN3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 14578192, 15221789, 16971480, 17994539, 18563459, 21984748, 22378277). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 16, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive limb-girdle muscular dystrophy
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004803435.1
First in ClinVar: Mar 30, 2024 Last updated: Mar 30, 2024 |
Comment:
Variant summary: CAPN3 c.1468C>T (p.Arg490Trp) results in a non-conservative amino acid change located in the Peptidase C2, calpain, large subunit, domain III (IPR022682) of the … (more)
Variant summary: CAPN3 c.1468C>T (p.Arg490Trp) results in a non-conservative amino acid change located in the Peptidase C2, calpain, large subunit, domain III (IPR022682) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.4e-05 in 251162 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in CAPN3 causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive (8.4e-05 vs 0.0032), allowing no conclusion about variant significance. c.1468C>T has been reported in the literature in multiple individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive (dePaula_2002, Fanin_2003). These data indicate that the variant is very likely to be associated with disease. At least one publication reports this variant affected the normal autocatalytic function (Fanin_2003). The following publications have been ascertained in the context of this evaluation (PMID: 14578192, 12461690). ClinVar contains an entry for this variant (Variation ID: 166790). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Mar 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001247171.20
First in ClinVar: May 09, 2020 Last updated: Apr 15, 2024 |
Comment:
CAPN3: PM3:Strong, PM2, PM5, PP1, PP3
Number of individuals with the variant: 2
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Pathogenic
(Sep 16, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Limb-girdle muscular dystrophy type 2A
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001454342.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001798602.1 First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001951804.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808038.1 First in ClinVar: Aug 27, 2021 Last updated: Aug 27, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B. | Arrigoni F | Muscle & nerve | 2018 | PMID: 30028523 |
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. | Toral-Ojeda I | Expert reviews in molecular medicine | 2016 | PMID: 27055500 |
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. | Park HJ | Yonsei medical journal | 2016 | PMID: 26632398 |
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction. | Ojima K | Genes to cells : devoted to molecular & cellular mechanisms | 2014 | PMID: 25252031 |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. | Stehlíková K | BMC neurology | 2014 | PMID: 25135358 |
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis. | Leidenroth A | European journal of human genetics : EJHG | 2012 | PMID: 22378277 |
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. | Sacconi S | Journal of medical genetics | 2012 | PMID: 21984748 |
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? | Krahn M | Clinical genetics | 2011 | PMID: 21204801 |
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3. | Garnham CP | Biochemistry | 2009 | PMID: 19226146 |
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. | Fanin M | European journal of human genetics : EJHG | 2009 | PMID: 18854869 |
Gene expression profiling in limb-girdle muscular dystrophy 2A. | Sáenz A | PloS one | 2008 | PMID: 19015733 |
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. | Blázquez L | Neurogenetics | 2008 | PMID: 18563459 |
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. | Guglieri M | Human mutation | 2008 | PMID: 17994539 |
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. | Groen EJ | Brain : a journal of neurology | 2007 | PMID: 18055493 |
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. | Stehlíková K | Neuromuscular disorders : NMD | 2007 | PMID: 17157502 |
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. | Fanin M | Journal of medical genetics | 2007 | PMID: 16971480 |
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. | Hermanová M | Muscle & nerve | 2006 | PMID: 16372320 |
Molecular diagnosis in LGMD2A: mutation analysis or protein testing? | Fanin M | Human mutation | 2004 | PMID: 15221789 |
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. | Fanin M | The American journal of pathology | 2003 | PMID: 14578192 |
Clinical variability in calpainopathy: what makes the difference? | de Paula F | European journal of human genetics : EJHG | 2002 | PMID: 12461690 |
Calpainopathy-a survey of mutations and polymorphisms. | Richard I | American journal of human genetics | 1999 | PMID: 10330340 |
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. | Ono Y | The Journal of biological chemistry | 1998 | PMID: 9642272 |
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. | Richard I | American journal of human genetics | 1997 | PMID: 9150160 |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. | Richard I | Cell | 1995 | PMID: 7720071 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CAPN3 | - | - | - | - |
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Text-mined citations for rs141656719 ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.