ClinVar Genomic variation as it relates to human health
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
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_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
Variation ID: 14489 Accession: VCV000014489.27
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q22 1: 156136984 (GRCh38) [ NCBI UCSC ] 1: 156106775 (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 19, 2013 Oct 8, 2024 Nov 10, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_170707.4:c.1444C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_733821.1:p.Arg482Trp missense NM_005572.4:c.1444C>T MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_005563.1:p.Arg482Trp missense NM_001257374.3:c.1108C>T NP_001244303.1:p.Arg370Trp missense NM_001282624.2:c.1201C>T NP_001269553.1:p.Arg401Trp missense NM_001282625.2:c.1444C>T NP_001269554.1:p.Arg482Trp missense NM_001282626.2:c.1444C>T NP_001269555.1:p.Arg482Trp missense NM_005572.3(LMNA):c.1444C>T NM_170708.4:c.1444C>T NP_733822.1:p.Arg482Trp missense NC_000001.11:g.156136984C>T NC_000001.10:g.156106775C>T NG_008692.2:g.59412C>T LRG_254:g.59412C>T LRG_254t1:c.1444C>T LRG_254p1:p.Arg482Trp LRG_254t2:c.1444C>T P02545:p.Arg482Trp - Protein change
- R482W, R401W, R370W
- Other names
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- Canonical SPDI
- NC_000001.11:156136983: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.
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
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 |
1839 | 2119 |
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 (2) |
criteria provided, single submitter
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Nov 14, 2014 | RCV000015579.34 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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May 20, 2022 | RCV000057298.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 22, 2020 | RCV001248961.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 10, 2023 | RCV001235764.7 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV001174239.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 27, 2018 | RCV002390112.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 1, 2022 | RCV002482872.1 | |
LMNA-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Jul 26, 2024 | RCV004532362.2 |
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
(Feb 15, 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: SCV002017165.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Nov 14, 2014)
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criteria provided, single submitter
Method: clinical testing
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Lipodystrophy, familial partial, 2
Affected status: yes
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV000247852.1
First in ClinVar: Oct 05, 2015 Last updated: Oct 05, 2015 |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease
Affected status: yes
Allele origin:
germline
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Molecular Genetics Laboratory, London Health Sciences Centre
Accession: SCV001337368.1
First in ClinVar: Jun 14, 2020 Last updated: Jun 14, 2020 |
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Pathogenic
(May 20, 2022)
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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: SCV001784724.2
First in ClinVar: Aug 14, 2021 Last updated: Sep 16, 2024 |
Comment:
Recurrent pathogenic variant that has been reported in the heterozygous state in multiple individuals with partial lipodystrophy (PMID: 10655060); Multiple functional studies demonstrate that the … (more)
Recurrent pathogenic variant that has been reported in the heterozygous state in multiple individuals with partial lipodystrophy (PMID: 10655060); Multiple functional studies demonstrate that the R482W variant impairs the function of several lamin A interacting genes involved in adipogenesis and lipid metabolism (PMID: 25524705, 24108105); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27841971, 29438482, 29578370, 14510863, 26027246, 26756202, 34862408, 19574635, 21989830, 23846499, 25885670, 18396274, 23427149, 24108105, 20130076, 11344241, 19220582, 11792809, 14749366, 24375749, 26724531, 12669268, 26976018, 24002959, 27504462, 28751304, 28641778, 12524233, 17524034, 19622949, 16459536, 29108996, 30165155, 31194872, 29704234, 30954027, 31383942, 32041611, 33803652, 33502018, 10655060, 10939567, 25524705) (less)
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Pathogenic
(Nov 10, 2023)
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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: SCV001408468.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 482 of the LMNA protein … (more)
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 482 of the LMNA protein (p.Arg482Trp). This variant is present in population databases (rs57920071, gnomAD 0.0009%). This missense change has been observed in individuals with autosomal dominant familial partial lipodystrophy (PMID: 19622949, 25885670). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 14489). 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%. Experimental studies have shown that this missense change affects LMNA function (PMID: 19220582). This variant disrupts the p.Arg482 amino acid residue in LMNA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10587585, 10999791, 19418082, 19859838, 20130076, 20625965, 26662654). 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 22, 2020)
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criteria provided, single submitter
Method: curation
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Familial partial lipodystrophy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Accession: SCV001422760.2
First in ClinVar: Jul 19, 2020 Last updated: Feb 01, 2022 |
Comment:
The p.Arg482Trp variant in LMNA has been reported in at least 12 European individuals with familial partial lipodystrophy, segregated with disease in at least 7 … (more)
The p.Arg482Trp variant in LMNA has been reported in at least 12 European individuals with familial partial lipodystrophy, segregated with disease in at least 7 affected relatives from 2 families (PMID: 15531479, 10655060,11344241), and has been identified in 0.0009% (1/113640) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs57920071). This variant has also been reported in ClinVar as pathogenic (Variation ID: 14489). In vitro functional studies provide some evidence that the p.Arg482Trp variant may slightly impact protein function (PMID: 25524705). However, these types of assays may not accurately represent biological function. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. One additional likely pathogenic and one pathogenic variant, resulting in a different amino acid change at the same position, p.Arg482Leu and p.Arg482Gln, have been reported in association with disease in the literature and ClinVar, supporting that a change at this position may not be tolerated (PMID: 10655060, 14597414, 19201734, 23313286, 10587585, 20130076, 28492532 /Variation ID: 14490 and 14486). In summary, this variant meets criteria to be classified as pathogenic for familial partial lipodystrophy in an autosomal dominant manner based on cosegregation with disease in multiple affected families and the prevalence of this variant in many affected individuals. ACMG/AMP Criteria applied: PP1_strong, PS4_moderate, PM5, PM2, PP3, PS3_supporting (Richards 2015). (less)
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Pathogenic
(Nov 27, 2018)
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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: SCV002701519.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.R482W pathogenic mutation (also known as c.1444C>T), located in coding exon 8 of the LMNA gene, results from a C to T substitution at … (more)
The p.R482W pathogenic mutation (also known as c.1444C>T), located in coding exon 8 of the LMNA gene, results from a C to T substitution at nucleotide position 1444. The arginine at codon 482 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration is a recurrent mutation that has been detected in numerous individuals with familial partial lipodystrophy (FPLD) and has been shown to segregate with disease in multiple families (Peters JM et al. Nat. Genet., 1998 Mar;18:292-5; Hegele RA et al. J. Clin. Endocrinol. Metab., 2000 Sep;85:3431-5; Speckman RA et al. Am. J. Hum. Genet., 2000 Apr;66:1192-8; Vigouroux C et al. Diabetes, 2000 Nov;49:1958-62; Schmidt HH et al. J. Clin. Endocrinol. Metab., 2001 May;86:2289-95; Vantyghem MC et al. J. Clin. Endocrinol. Metab., 2004 Nov;89:5337-46; Keller J et al. Obstet Gynecol, 2009 Aug;114:427-31; Nabrdalik K et al. Endokrynol Pol, 2013;64:306-11; Akinci B et al. Metab. Clin. Exp., 2017 07;72:109-119). Other alterations in the same codon, p.R482Q and p.R482L, have also been described in FPLD patients (Shackleton S et al. Nat. Genet., 2000 Feb;24:153-6). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Apr 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1A
Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2B1 Heart-hand syndrome, Slovenian type Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy 3, autosomal recessive Restrictive dermopathy 2
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002793126.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(May 01, 2001)
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no assertion criteria provided
Method: literature only
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LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000035844.4
First in ClinVar: Apr 04, 2013 Last updated: Sep 28, 2018 |
Comment on evidence:
In 6 families and 3 isolated cases of partial lipodystrophy (FPLD2; 151660), Shackleton et al. (2000) found heterozygosity for C-to-T transition in the LMNA gene, … (more)
In 6 families and 3 isolated cases of partial lipodystrophy (FPLD2; 151660), Shackleton et al. (2000) found heterozygosity for C-to-T transition in the LMNA gene, resulting in an arg482-to-trp (R482W) substitution. This is the same codon as that affected in the R482Q mutation (150330.0010). R482L (150330.0012) is a third mutation in the same codon causing partial lipodystrophy. Schmidt et al. (2001) identified a family with partial lipodystrophy carrying the R482W mutation in the LMNA gene. Clinically, the loss of subcutaneous fat and muscular hypertrophy, especially of the lower extremities, started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. Characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. In conclusion, dyslipidemia is an early and prominent feature in the presented lipodystrophic family carrying the R482W mutation. Vadrot et al. (2015) stated that R482 is located within the Ig fold common to A-type lamins, and found that the Ig fold is involved in binding of A-type lamins to SREBP1. In overexpression studies in primary human preadipocytes and patient fibroblasts, Vadrot et al. (2015) found that the R482W substitution reduced the inhibitory interaction of mutant LMNA with SREBP1. R482W patient fibroblasts showed elevated SREBP1 transcriptional activity and derepression of a large number of SREBP1 target genes. (less)
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Pathogenic
(Jul 26, 2024)
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no assertion criteria provided
Method: clinical testing
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LMNA-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004754078.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
The LMNA c.1444C>T variant is predicted to result in the amino acid substitution p.Arg482Trp. This variant has been reported in the heterozygous state in many … (more)
The LMNA c.1444C>T variant is predicted to result in the amino acid substitution p.Arg482Trp. This variant has been reported in the heterozygous state in many unrelated individuals and is the most common causative variant for familial partial lipodystrophy in the LMNA gene (Shackleton et al. 2000. PubMed ID: 10655060; Cao and Hegele. 2000. PubMed ID: 10587585; Belo et al. 2015. PubMed ID: 25885670; Vadrot et al. 2015. PubMed ID: 25524705; Vasandani et al. 2022. PubMed ID: 36397776). Functional studies indicate the p.Arg482Trp variant in the LMNA protein impairs the transcriptional activity of SREBP1 which plays a key role in lipid metabolism and adipocyte differentiation (Vadrot et al. 2015. PubMed ID: 25524705). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Based on the collective evidence, this variant is interpreted as pathogenic. (less)
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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: SCV000088411.1
First in ClinVar: Oct 19, 2013 Last updated: Oct 19, 2013 |
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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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The lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks. | Briand N | Human molecular genetics | 2018 | PMID: 29438482 |
A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus. | Oldenburg A | The Journal of cell biology | 2017 | PMID: 28751304 |
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. | Akinci B | Metabolism: clinical and experimental | 2017 | PMID: 28641778 |
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. | Tu Y | Nucleus (Austin, Tex.) | 2016 | PMID: 27841971 |
An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. | Panikkath R | Journal of investigative medicine high impact case reports | 2016 | PMID: 27504462 |
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. | Krawiec P | BMC pediatrics | 2016 | PMID: 26976018 |
Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations. | Demir T | Diabetic medicine : a journal of the British Diabetic Association | 2016 | PMID: 26756202 |
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation. | Afonso P | Atherosclerosis | 2016 | PMID: 26724531 |
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. | Lewandowski KC | Endokrynologia Polska | 2015 | PMID: 26662654 |
[Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia]. | Sorkina EL | Terapevticheskii arkhiv | 2015 | PMID: 26027246 |
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. | Belo SP | BMC research notes | 2015 | PMID: 25885670 |
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. | Vadrot N | Human molecular genetics | 2015 | PMID: 25524705 |
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies. | Scharner J | Proteins | 2014 | PMID: 24375749 |
Deregulation of Fragile X-related protein 1 by the lipodystrophic lamin A p.R482W mutation elicits a myogenic gene expression program in preadipocytes. | Oldenburg AR | Human molecular genetics | 2014 | PMID: 24108105 |
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. | Nabrdalik K | Endokrynologia Polska | 2013 | PMID: 24002959 |
Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction. | Bidault G | Arteriosclerosis, thrombosis, and vascular biology | 2013 | PMID: 23846499 |
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. | Zwerger M | Human molecular genetics | 2013 | PMID: 23427149 |
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. | Monteiro LZ | Indian journal of endocrinology and metabolism | 2012 | PMID: 22276265 |
In silico investigation of molecular mechanism of laminopathy caused by a point mutation (R482W) in lamin A/C protein. | Rajendran V | Amino acids | 2012 | PMID: 21989830 |
LMNA mutations induce a non-inflammatory fibrosis and a brown fat-like dystrophy of enlarged cervical adipose tissue. | Béréziat V | The American journal of pathology | 2011 | PMID: 21945321 |
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARγ mutation (Y151C). | Visser ME | Diabetologia | 2011 | PMID: 21479595 |
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. | Drac H | Neurologia i neurochirurgia polska | 2010 | PMID: 20625965 |
LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance. | Boschmann M | The Journal of clinical endocrinology and metabolism | 2010 | PMID: 20130076 |
LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype. | Klupa T | Endocrine | 2009 | PMID: 19859838 |
Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism. | Keller J | Obstetrics and gynecology | 2009 | PMID: 19622949 |
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). | Magracheva E | Acta crystallographica. Section F, Structural biology and crystallization communications | 2009 | PMID: 19574635 |
Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease. | Patel K | Sleep & breathing = Schlaf & Atmung | 2009 | PMID: 19418082 |
Long-term improvement of metabolic control with pioglitazone in a woman with diabetes mellitus related to Dunnigan syndrome: a case report. | Collet-Gaudillat C | Diabetes & metabolism | 2009 | PMID: 19249234 |
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress. | Verstraeten VL | Journal of cellular and molecular medicine | 2009 | PMID: 19220582 |
Comparison of phenotypes in male and female individuals of a new family with Dunnigan type of familial partial lipodystrophy due to a lamin A/C R482W mutation. | Laudes M | Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme | 2009 | PMID: 19204888 |
Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects. | Håkelien AM | Experimental cell research | 2008 | PMID: 18396274 |
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism. | Vantyghem MC | Clinical endocrinology | 2007 | PMID: 17524034 |
An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type). | Pandey SN | The Journal of the Association of Physicians of India | 2005 | PMID: 16459536 |
Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. | Lüdtke A | The American journal of gastroenterology | 2005 | PMID: 16181372 |
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. | Vantyghem MC | The Journal of clinical endocrinology and metabolism | 2004 | PMID: 15531479 |
Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. | Favreau C | Molecular and cellular biology | 2004 | PMID: 14749366 |
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. | Owen KR | Diabetic medicine : a journal of the British Diabetic Association | 2003 | PMID: 14510863 |
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. | Araújo-Vilar D | Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme | 2003 | PMID: 12669268 |
Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy. | Hegele RA | Arteriosclerosis, thrombosis, and vascular biology | 2003 | PMID: 12524233 |
Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. | Schmidt HH | The Journal of clinical endocrinology and metabolism | 2001 | PMID: 11344241 |
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. | Vigouroux C | Diabetes | 2000 | PMID: 11078466 |
Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. | Hegele RA | The Journal of clinical endocrinology and metabolism | 2000 | PMID: 10999845 |
LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration. | Hegele RA | The Journal of clinical endocrinology and metabolism | 2000 | PMID: 10999791 |
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. | Speckman RA | American journal of human genetics | 2000 | PMID: 10739751 |
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. | Shackleton S | Nature genetics | 2000 | PMID: 10655060 |
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. | Cao H | Human molecular genetics | 2000 | PMID: 10587585 |
Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. | Peters JM | Nature genetics | 1998 | PMID: 9500556 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/a07ea7b0-3519-4b50-865c-7edd3735afa8 | - | - | - | - |
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Text-mined citations for rs57920071 ...
HelpRecord last updated Oct 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.