ClinVar Genomic variation as it relates to human health
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
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.
Pathogenic(10); Uncertain significance(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
Variation ID: 14498 Accession: VCV000014498.58
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q22 1: 156135268 (GRCh38) [ NCBI UCSC ] 1: 156105059 (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 Oct 1, 2013 Oct 20, 2024 Jan 21, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_170707.4:c.892C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_733821.1:p.Arg298Cys missense NM_005572.4:c.892C>T MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_005563.1:p.Arg298Cys missense NM_001257374.3:c.556C>T NP_001244303.1:p.Arg186Cys missense NM_001282624.2:c.649C>T NP_001269553.1:p.Arg217Cys missense NM_001282625.2:c.892C>T NP_001269554.1:p.Arg298Cys missense NM_001282626.2:c.892C>T NP_001269555.1:p.Arg298Cys missense NM_170708.4:c.892C>T NP_733822.1:p.Arg298Cys missense NC_000001.11:g.156135268C>T NC_000001.10:g.156105059C>T NG_008692.2:g.57696C>T LRG_254:g.57696C>T LRG_254t2:c.892C>T LRG_254p2:p.Arg298Cys P02545:p.Arg298Cys - Protein change
- R298C, R186C, R217C
- Other names
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- Canonical SPDI
- NC_000001.11:156135267: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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00004
- Links
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
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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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LMNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1845 | 2125 |
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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Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Jun 2, 2023 | RCV000015590.41 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Feb 17, 2023 | RCV000057479.35 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 21, 2024 | RCV000653885.15 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 2, 2018 | RCV000826146.12 | |
Pathogenic (1) |
criteria provided, single submitter
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May 28, 2019 | RCV000986429.8 | |
no classifications from unflagged records (1) |
no classifications from unflagged records
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Jun 14, 2024 | RCV001176301.12 | |
no classifications from unflagged records (1) |
no classifications from unflagged records
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Jun 14, 2024 | RCV002467495.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 22, 2022 | RCV003162253.10 | |
no classifications from unflagged records (1) |
no classifications from unflagged records
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Jun 14, 2024 | RCV003996100.3 |
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
(Nov 18, 2014)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease type 2B1
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Athena Diagnostics
Accession: SCV000255789.2
First in ClinVar: Oct 19, 2015 Last updated: Oct 19, 2015 |
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Pathogenic
(Mar 02, 2018)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive axonal hereditary motor and sensory neuropathy
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000967676.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
The p.Arg298Cys variant in LMNA has been reported as homozygous in at least 25 N orth African consanguineous families with clinical features of Charcot Marie … (more)
The p.Arg298Cys variant in LMNA has been reported as homozygous in at least 25 N orth African consanguineous families with clinical features of Charcot Marie Too th Disease variant 2B1 (CMT2B1) and has been described as a founder variant in t his population (De Sandre-Giovannoli 2002, Chaouch 2003, Bouhouche 2007, Ben Yao u 2007, Hamadouche 2008). Animal models of this homozygous variant are associate d with some molecular findings but not the phenotypic abnormalities seen in CMT2 B1 patients (Poitelon 2012). This variant has been identified in 6/1111132 of Eu ropean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org; dbSNP rs59885338) and reported in ClinVar (Variation ID# 14498) ; however its frequency is low enough to be consistent with a recessive carrier frequency. In addition, computational prediction tools and conservation analysis suggest that the p.Arg298Cys variant may impact the protein. In summary, this v ariant meets criteria to be classified as pathogenic for CMT2B1 in an autosomal recessive manner based upon segregation studies, low frequency in controls, and functional evidence. ACMG/AMP Criteria applied: PS4; PP1_Strong; PM2_Supporting; PP3. (less)
Number of individuals with the variant: 2
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Pathogenic
(Dec 20, 2022)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease type 2B1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV003834837.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(May 03, 2021)
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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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Revvity Omics, Revvity
Accession: SCV002017154.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 21, 2024)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease type 2
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000775775.7
First in ClinVar: May 28, 2018 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 298 of the LMNA protein … (more)
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 298 of the LMNA protein (p.Arg298Cys). This variant is present in population databases (rs59885338, gnomAD 0.005%). This missense change has been observed in individual(s) with autosomal recessive Charcot-Marie-Tooth disease (PMID: 14607793, 17347251, 18549403). It is commonly reported in individuals of North African ancestry (PMID: 11799477, 14607793, 17347251, 18549403). ClinVar contains an entry for this variant (Variation ID: 14498). 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 LMNA protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Nov 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003900666.2
First in ClinVar: Apr 15, 2023 Last updated: May 01, 2024 |
Comment:
The p.R298C pathogenic mutation (also known as c.892C>T), located in coding exon 5 of the LMNA gene, results from a C to T substitution at … (more)
The p.R298C pathogenic mutation (also known as c.892C>T), located in coding exon 5 of the LMNA gene, results from a C to T substitution at nucleotide position 892. The arginine at codon 298 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant has been detected in multiple homozygous individuals with autosomal recessive Charcot-Marie-Tooth disease, has shown segregation with disease in multiple families of Algerian or Moroccan descent, and has been described as a north western African founder mutation (Tazir M et al. Brain, 2004 Jan;127:154-63; Chaouch M et al. Neuromuscul Disord, 2003 Jan;13:60-7; Bouhouche A et al. Brain, 2007 Apr;130:1062-75; Hamadouche T et al. Ann Hum Genet, 2008 Sep;72:590-7). In vitro studies indicate this variant may impact protein function and lead to abnormal nuclear aggregates in some mammalian cell lines (Dreuillet C et al. Biol Cell, 2008 Jan;100:51-61; Anderson CL et al. NPJ Genom Med, 2021 Dec;6:103). In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this variant is expected to be causative of autosomal recessive Charcot-Marie-Tooth disease when present along with a second pathogenic variant on the other allele; however, its clinical significance for autosomal dominant cardiomyopathy and other laminopathies is unclear. (less)
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Uncertain significance
(Jun 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease type 2B1
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV005373547.1
First in ClinVar: Oct 13, 2024 Last updated: Oct 13, 2024 |
Comment:
The observed missense c.344T>C(p.Leu115Pro) variant in GABRB2 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The … (more)
The observed missense c.344T>C(p.Leu115Pro) variant in GABRB2 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Leu115Pro variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences (Polyphen - Probably damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid change at this position on GABRB2 gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Leu at position 115 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS). (less)
Clinical Features:
Abnormality of the nervous system (present)
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Pathogenic
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hutchinson-Gilford syndrome
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001135429.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
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Pathogenic
(Feb 17, 2023)
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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: SCV003805507.1
First in ClinVar: Mar 04, 2023 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a damaging effect as cells from R298C homozygous knock in mice showed downregulation of LMNA at both the protein and mRNA … (more)
Published functional studies demonstrate a damaging effect as cells from R298C homozygous knock in mice showed downregulation of LMNA at both the protein and mRNA level (Poitelon et al., 2012); 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: 12467734, 14607793, 11799477, 18549403, 17347251, 17536044, 35383421, 16809772, 10939567, 30340945, 34862408, 35449878, 22331516, 31383942) (less)
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Pathogenic
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002009466.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Pathogenic
(May 01, 2017)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001248555.26
First in ClinVar: May 12, 2020 Last updated: Oct 20, 2024 |
Number of individuals with the variant: 1
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925058.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Pathogenic
(Dec 01, 2007)
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no assertion criteria provided
Method: literature only
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CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000035855.6
First in ClinVar: Apr 04, 2013 Last updated: Mar 18, 2023 |
Comment on evidence:
De Sandre-Giovannoli et al. (2002) found a homozygous arg298-to-cys (R298C) mutation in the LMNA gene in affected members of Algerian families with axonal Charcot-Marie-Tooth disease … (more)
De Sandre-Giovannoli et al. (2002) found a homozygous arg298-to-cys (R298C) mutation in the LMNA gene in affected members of Algerian families with axonal Charcot-Marie-Tooth disease type 2B1 (CMT2B1; 605588). Ben Yaou et al. (2007) identified a homozygous R298C mutation in a female and 2 male affected members of an Algerian family with CMT2B1. The 2 males also had X-linked Emery-Dreifuss muscular dystrophy (310300) and a hemizygous mutation in the EMD gene (300384). (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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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: SCV001800542.1 First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
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not provided
(-)
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no classification provided
Method: not provided
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not provided
Affected status: not provided
Allele origin:
not provided
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Epithelial Biology; Institute of Medical Biology, Singapore
Accession: SCV000088593.1
First in ClinVar: Oct 19, 2013 Last updated: Oct 19, 2013 |
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Uncertain Significance
(Feb 05, 2024)
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Flagged submission
flagged submission
Method: clinical testing
Reason: Unnecessary conflicting claim for distinct condition when other classifications are more relevant
Notes: Claim states uncertain significance for cardiomyopathy, but says that variant is causative for Charcot-Marie-Tooth type 2. https://clinicalgenome.org/site/assets/files/9380/clingen_guidance_for_classifying_variants_in_genes_associated_with_multiple_disorders_v1.pdf
(less)
Notes: Claim states uncertain
(...more)
Source: ClinGen
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Primary dilated cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004814709.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces arginine with cysteine at codon 298 of the lamin A/C proteins. Computational prediction suggests that this variant may have a deleterious … (more)
This missense variant replaces arginine with cysteine at codon 298 of the lamin A/C proteins. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant is a well-known founder mutation in North African countries and has been reported to segregate with autosomal recessive Charcot-Marie-Tooth type 2 in affected families (PMID: 11799477, 12467734, 14607793, 17347251; Clinvar variation ID: 14498). Cardiac systems were normal in all of over 20 homozygotes assessed (PMID: 12467734, 14607793). Over 40 heterozygous carriers were reported from these families, who were all asymptomatic except for one individual with nonspecific cardiac abnormalities (PMID: 17536044). This variant has also been reported in another two heterozygous individuals referred for cardiac catheterization (PMID: 32792077). This variant has been identified in 9/250398 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as a Variant of Uncertain Significance for autosomal dominant cardiomyopathy, although it is known to cause autosomal recessive Charcot-Marie-Tooth type 2 (ClinVar variation ID:14498). (less)
Number of individuals with the variant: 7
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Uncertain significance
(Dec 17, 2020)
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Flagged submission
flagged submission
Method: clinical testing
Reason: Outlier claim with insufficient supporting evidence
Source: ClinGen
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Familial partial lipodystrophy, Dunnigan type
Affected status: unknown
Allele origin:
germline
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New York Genome Center
Accession: SCV002764532.1
First in ClinVar: Dec 17, 2022 Last updated: Dec 17, 2022 |
Comment:
The heterozygous c.892C>T (p.Arg298Cys) variant in LMNA is a known pathogenic variant for autosomal recessive Charcot-Marie-Tooth disease, type 2B1(CMT2B1), and has been reported as homozygous … (more)
The heterozygous c.892C>T (p.Arg298Cys) variant in LMNA is a known pathogenic variant for autosomal recessive Charcot-Marie-Tooth disease, type 2B1(CMT2B1), and has been reported as homozygous in multiple consanguineous families affected with CMT2B1 [PMID: 11799477;PMID: 14607793;PMID: 12467734]. Family-members carrying heterozygous p.Arg298Cys variant were apparently normal [PMID: 11799477;PMID: 14607793;PMID: 12467734]. The variant has been reported in ClinVar database as pathogenic for recessive CMT2B1 disease [Variation ID:14498]. The p.Arg298Cys variant has 0.00002627 allele frequency in the gnomAD(v3) database (4 out of 152,244 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in the general population. The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico prediction tools. Given that heterozygous carriers of p.Arg298Cys were apparently normal, and due to the absence of evidence supporting its pathogenicity in heterozygous state, the p.Arg298Cys variant in the LMNA gene is reported as a variant of uncertain significance for autosomal dominant familial partial lipodystrophy. (less)
Clinical Features:
Hyperlipidemia (present) , Hepatic steatosis (present)
Secondary finding: no
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Uncertain significance
(May 15, 2023)
|
Flagged submission
flagged submission
Method: clinical testing
Reason: Unnecessary conflicting claim for distinct condition when other classifications are more relevant
Notes: Claim states uncertain significance for cardiomyopathy, but says that variant is causative for Charcot-Marie-Tooth type 2. https://clinicalgenome.org/site/assets/files/9380/clingen_guidance_for_classifying_variants_in_genes_associated_with_multiple_disorders_v1.pdf
(less)
Notes: Claim states uncertain
(...more)
Source: ClinGen
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV001340218.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces arginine with cysteine at codon 298 of the lamin A/C proteins. Computational prediction suggests that this variant may have a deleterious … (more)
This missense variant replaces arginine with cysteine at codon 298 of the lamin A/C proteins. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant is a well-known founder mutation in North African countries and has been reported to segregate with autosomal recessive Charcot-Marie-Tooth type 2 in affected families (PMID: 11799477, 12467734, 14607793, 17347251; Clinvar variation ID: 14498). Cardiac systems were normal in all of over 20 homozygotes assessed (PMID: 12467734, 14607793). Over 40 heterozygous carriers were reported from these families, who were all asymptomatic except for one individual with nonspecific cardiac abnormalities (PMID: 17536044). This variant has also been reported in another two heterozygous individuals referred for cardiac catheterization (PMID: 32792077). This variant has been identified in 9/250398 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as a Variant of Uncertain Significance for autosomal dominant cardiomyopathy, although it is known to cause autosomal recessive Charcot-Marie-Tooth type 2 (ClinVar variation ID:14498). (less)
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Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more |
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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Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights. | Pessente GD | Frontiers in cardiovascular medicine | 2022 | PMID: 35449878 |
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance. | Anderson CL | NPJ genomic medicine | 2021 | PMID: 34862408 |
Identification of Undetected Monogenic Cardiovascular Disorders. | Abdulrahim JW | Journal of the American College of Cardiology | 2020 | PMID: 32792077 |
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants. | van Tienen FHJ | European journal of human genetics : EJHG | 2019 | PMID: 30420677 |
Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlations. | Hoebeke C | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | 2018 | PMID: 30340945 |
Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C). | Poitelon Y | Neuromolecular medicine | 2012 | PMID: 22331516 |
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. | Hamadouche T | Annals of human genetics | 2008 | PMID: 18549403 |
Mislocalization of human transcription factor MOK2 in the presence of pathogenic mutations of lamin A/C. | Dreuillet C | Biology of the cell | 2008 | PMID: 17760566 |
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. | Decaudain A | The Journal of clinical endocrinology and metabolism | 2007 | PMID: 17711925 |
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? | Ben Yaou R | Neurology | 2007 | PMID: 17536044 |
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. | Benedetti S | Neurology | 2007 | PMID: 17377071 |
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. | Bouhouche A | Brain : a journal of neurology | 2007 | PMID: 17347251 |
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. | Tazir M | Brain : a journal of neurology | 2004 | PMID: 14607793 |
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. | Chaouch M | Neuromuscular disorders : NMD | 2003 | PMID: 12467734 |
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. | De Sandre-Giovannoli A | American journal of human genetics | 2002 | PMID: 11799477 |
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Text-mined citations for rs59885338 ...
HelpRecord last updated Nov 03, 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.