VCV000002554.44 - ClinVar

NM_000243.3(MEFV):c.443A>T (p.Glu148Val)

Germline

Classification

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.

(14)

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.

Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(7); Benign(2); Likely benign(1)

criteria provided, conflicting classifications

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000243.3(MEFV):c.443A>T (p.Glu148Val)

Variation ID: 2554 Accession: VCV000002554.44

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 16p13.3 16: 3254625 (GRCh38) [ NCBI UCSC ] 16: 3304625 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	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	Apr 4, 2013	Oct 20, 2024	Apr 29, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000243.3:c.443A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000234.1:p.Glu148Val	missense
NM_001198536.2:c.277+1686A>T		intron variant
NC_000016.10:g.3254625T>A
NC_000016.9:g.3304625T>A
NG_007871.1:g.7003A>T
LRG_190:g.7003A>T
LRG_190t1:c.443A>T	LRG_190p1:p.Glu148Val
	O15553:p.Glu148Val

... more HGVS ... less HGVS

Protein change

E148V

Other names

Canonical SPDI

NC_000016.10:3254624:T:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

Allele frequency Help The frequency of the allele represented by this VCV record.

The Genome Aggregation Database (gnomAD) 0.00001

Trans-Omics for Precision Medicine (TOPMed) 0.00004

The Genome Aggregation Database (gnomAD), exomes 0.00008

Exome Aggregation Consortium (ExAC) 0.00010

Links

ClinGen: CA280120 UniProtKB: O15553#VAR_028328 OMIM: 608107.0017 dbSNP: rs104895076 VarSome

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
Gene	OMIM	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.
MEFV		No evidence available	No evidence available	GRCh38 GRCh37	956	1257

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.
Familial Mediterranean fever	Conflicting interpretations of pathogenicity (5)	criteria provided, conflicting classifications	Feb 8, 2023	RCV000002663.17
not provided	Conflicting interpretations of pathogenicity (2)	criteria provided, conflicting classifications	Apr 29, 2024	RCV000415966.23
not specified	Uncertain significance (2)	criteria provided, multiple submitters, no conflicts	Dec 19, 2022	RCV000216721.14
Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Uncertain significance (1)	criteria provided, single submitter	Apr 28, 2022	RCV002482818.2
Acute febrile neutrophilic dermatosis	Benign (1)	criteria provided, single submitter	Feb 8, 2023	RCV003125826.2
Autoinflammatory syndrome	Uncertain significance (1)	criteria provided, single submitter	Dec 1, 2017	RCV002262552.4
Familial Mediterranean fever, autosomal dominant	Conflicting interpretations of pathogenicity (2)	criteria provided, conflicting classifications	Sep 30, 2023	RCV003125825.4

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.
Uncertain significance (Oct 30, 2018)	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories Accession: SCV001156673.1 First in ClinVar: Feb 09, 2020 Last updated: Feb 09, 2020	Comment: The MEFV c.443A>T; p.Glu148Val variant (rs104895076), is reported in the literature in the heterozygous, compound heterozygous, and homozygous state in individuals with a variety of … (more) The MEFV c.443A>T; p.Glu148Val variant (rs104895076), is reported in the literature in the heterozygous, compound heterozygous, and homozygous state in individuals with a variety of symptoms, ranging from no symptoms to juvenile idiopathic arthritis to familial Mediterranean fever (Comak 2013, Dogan 2013, Dogan 2015, Giaglis 2007, Medlej-Hashim 2002, Sandhya 2017). This variant is reported in ClinVar (Variation ID: 2554), and is found in the South Asian population with an allele frequency of 0.043% (13/30,272 alleles) in the Genome Aggregation Database. The glutamic acid at codon 148 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to conflicting phenotype information, the clinical significance of the p.Glu148Val variant is uncertain at this time. References: Comak E et al. MEFV gene mutations in Turkish children with juvenile idiopathic arthritis. Eur J Pediatr. 2013 Aug;172(8):1061-7. Dogan CS et al. Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schonlein purpura without FMF symptoms. Rheumatol Int. 2013 Feb;33(2):377-80. Dogan H et al. Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations. Gene. 2015 Sep 1;568(2):170-5. Giaglis S et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet. 2007 May;71(5):458-67. Medlej-Hashim M et al. Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method. Clin Genet. 2002 Jan;61(1):71-3. Sandhya P et al. Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever. Int J Rheum Dis. 2017 Nov;20(11):1770-1775. (less)
Uncertain significance (Dec 01, 2017)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autoinflammatory syndrome Affected status: yes Allele origin: germline	Genome Diagnostics Laboratory, The Hospital for Sick Children Accession: SCV002543765.1 First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022
Uncertain significance (Apr 28, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV002786056.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Uncertain significance (Dec 19, 2022)	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV000052849.6 First in ClinVar: Apr 04, 2013 Last updated: Jan 15, 2023	Publications: PubMed (25) PubMed: 17489852‚ 14578331‚ 15502081‚ 14578333‚ 11903360‚ 15475974‚ 15643295‚ 21413889‚ 22451026‚ 22903357‚ 23588594‚ 23463692‚ 16403826‚ 24469716‚ 26028444‚ 26003477‚ 29047407‚ 29735907‚ 28483595‚ 26585190‚ 28211254‚ 28597968‚ 31411330‚ 32199921‚ 31646357 Comment: Variant summary: MEFV c.443A>T (p.Glu148Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more) Variant summary: MEFV c.443A>T (p.Glu148Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. A recently reported in-silico ensemble method for predicting pathogenicity of missense variants (Rare Exome Variant Ensemble Learner, REVEL) predicted a computed classification for this variant as likely pathogenic (Accetturo_2020). The variant allele was found at a frequency of 7.7e-05 in 235044 control chromosomes (gnomAD and publications). This frequency is not higher than expected for a pathogenic variant in MEFV causing Familial Mediterranean Fever (7.7e-05 vs 0.022), allowing no conclusion about variant significance. Following a comprehensive and conservative assessment of literature spanning over thirteen years (2007-2020), c.443A>T, has been reported in the literature in a homozygous/compound heterozygous genotype in multiple individuals affected with Familial Mediterranean Fever (example, Giaglis_2007, Ibrahim_2015, Lachmann_2006, Cekin_2017, Sandhya_2017, Gumus_2018, Bozgeyik_2020, Tanatar_2020). Numerous publications also reported affected individuals lacking a second allele. In addition, the variant has also been reported in asymptomatic individuals. At-least one co-occurrence in cis with another pathogenic MEFV variant (p.M694V Tchernitchko 2003) has been ascertained in the context of this evaluation. Variable reports of the extent of genotyping and lack of clearly defined phase information (i.e., presumed trans versus cis co-occurrence) confound an accurate assessment from the ascertained literature. These data indicate that the variant may be associated with disease in some genetic backgrounds. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six ClinVar submissions from clinical diagnostic laboratories (evaluations after 2014) cite the variant as "uncertain significance." Some submitters cite overlapping evidence utilized in the context of this evaluation. Therefore, due to the conflicting evidence outlined above, the variant has been classified as VUS-possibly pathogenic. (less)
Uncertain significance (Aug 09, 2022)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Familial Mediterranean fever Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001412934.2 First in ClinVar: Jul 16, 2020 Last updated: Feb 07, 2023	Publications: PubMed (5) PubMed: 17489852‚ 24469716‚ 28211254‚ 28483595‚ 29735907 Comment: This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 148 of the MEFV protein … (more) This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 148 of the MEFV protein (p.Glu148Val). This variant is present in population databases (rs104895076, gnomAD 0.04%). This missense change has been observed in individual(s) with familial mediterranean fever (PMID: 17489852, 24469716, 28211254, 28483595, 29735907). ClinVar contains an entry for this variant (Variation ID: 2554). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
Uncertain significance (Sep 30, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial Mediterranean fever, autosomal dominant Affected status: unknown Allele origin: unknown	Baylor Genetics Accession: SCV004194413.1 First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023
Uncertain significance (Apr 01, 2021)	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV000493691.27 First in ClinVar: Jan 30, 2017 Last updated: Oct 20, 2024	Number of individuals with the variant: 1
Benign (Feb 08, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial Mediterranean fever, autosomal dominant Affected status: unknown Allele origin: germline	Genome-Nilou Lab Accession: SCV003802371.1 First in ClinVar: Feb 18, 2023 Last updated: Feb 18, 2023
Likely benign (Feb 08, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial Mediterranean fever Affected status: unknown Allele origin: germline	Genome-Nilou Lab Accession: SCV003802370.1 First in ClinVar: Feb 18, 2023 Last updated: Feb 18, 2023
Benign (Feb 08, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Acute febrile neutrophilic dermatosis Affected status: unknown Allele origin: germline	Genome-Nilou Lab Accession: SCV003802372.1 First in ClinVar: Feb 18, 2023 Last updated: Feb 18, 2023
Likely pathogenic (Apr 29, 2024)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000279032.9 First in ClinVar: May 29, 2016 Last updated: Sep 16, 2024	Comment: 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: 25449140, … (more) 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: 25449140, 31411330, 23289470, 23588594, 28597968, 28483595, 29735907, 26585190, 30783801, 30874249, 30915208, 29756710, 28211254, 27170062, 34426522, 26247045, 35358658, 33576586, 26003477, 32199921, 22451026) (less)
Pathogenic (Jan 01, 2002)	no assertion criteria provided Method: literature only	FAMILIAL MEDITERRANEAN FEVER Affected status: not provided Allele origin: germline	OMIM Accession: SCV000022821.2 First in ClinVar: Apr 04, 2013 Last updated: Jun 15, 2020	Publications: PubMed (1) PubMed: 11903360 Comment on evidence: Medlej-Hashim et al. (2002) described the glu148-to-val mutation (E148V) in 1 Lebanese patient with familial Mediterranean fever (FMF; 249100). They pointed out that the usual … (more) Medlej-Hashim et al. (2002) described the glu148-to-val mutation (E148V) in 1 Lebanese patient with familial Mediterranean fever (FMF; 249100). They pointed out that the usual RFLP detection method used for E148Q (608107.0005), which may represent a polymorphism or at the most a weakly pathogenic allele, gives the same restriction pattern as does E148V. When AvaI restriction enzyme is used the 2 mutations cause the same pattern; different patterns are created by E148Q and E148V when MvaI enzyme is used. (less)
Uncertain significance (Sep 16, 2020)	no assertion criteria provided Method: clinical testing	Familial Mediterranean fever Affected status: unknown Allele origin: germline	Natera, Inc. Accession: SCV001452090.1 First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021
not provided (-)	no classification provided Method: not provided	Familial Mediterranean fever Affected status: not provided Allele origin: unknown	Unité médicale des maladies autoinflammatoires, CHRU Montpellier Accession: SCV000115872.1 First in ClinVar: Mar 06, 2014 Last updated: Mar 06, 2014
click to load more click to collapse

Comment:

The MEFV c.443A>T; p.Glu148Val variant (rs104895076), is reported in the literature in the heterozygous, compound heterozygous, and homozygous state in individuals with a variety of symptoms, ranging from no symptoms to juvenile idiopathic arthritis to familial Mediterranean fever (Comak 2013, Dogan 2013, Dogan 2015, Giaglis 2007, Medlej-Hashim 2002, Sandhya 2017). This variant is reported in ClinVar (Variation ID: 2554), and is found in the South Asian population with an allele frequency of 0.043% (13/30,272 alleles) in the Genome Aggregation Database. The glutamic acid at codon 148 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to conflicting phenotype information, the clinical significance of the p.Glu148Val variant is uncertain at this time. References: Comak E et al. MEFV gene mutations in Turkish children with juvenile idiopathic arthritis. Eur J Pediatr. 2013 Aug;172(8):1061-7. Dogan CS et al. Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schonlein purpura without FMF symptoms. Rheumatol Int. 2013 Feb;33(2):377-80. Dogan H et al. Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations. Gene. 2015 Sep 1;568(2):170-5. Giaglis S et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet. 2007 May;71(5):458-67. Medlej-Hashim M et al. Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method. Clin Genet. 2002 Jan;61(1):71-3. Sandhya P et al. Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever. Int J Rheum Dis. 2017 Nov;20(11):1770-1775.

Comment:

Variant summary: MEFV c.443A>T (p.Glu148Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. A recently reported in-silico ensemble method for predicting pathogenicity of missense variants (Rare Exome Variant Ensemble Learner, REVEL) predicted a computed classification for this variant as likely pathogenic (Accetturo_2020). The variant allele was found at a frequency of 7.7e-05 in 235044 control chromosomes (gnomAD and publications). This frequency is not higher than expected for a pathogenic variant in MEFV causing Familial Mediterranean Fever (7.7e-05 vs 0.022), allowing no conclusion about variant significance. Following a comprehensive and conservative assessment of literature spanning over thirteen years (2007-2020), c.443A>T, has been reported in the literature in a homozygous/compound heterozygous genotype in multiple individuals affected with Familial Mediterranean Fever (example, Giaglis_2007, Ibrahim_2015, Lachmann_2006, Cekin_2017, Sandhya_2017, Gumus_2018, Bozgeyik_2020, Tanatar_2020). Numerous publications also reported affected individuals lacking a second allele. In addition, the variant has also been reported in asymptomatic individuals. At-least one co-occurrence in cis with another pathogenic MEFV variant (p.M694V Tchernitchko 2003) has been ascertained in the context of this evaluation. Variable reports of the extent of genotyping and lack of clearly defined phase information (i.e., presumed trans versus cis co-occurrence) confound an accurate assessment from the ascertained literature. These data indicate that the variant may be associated with disease in some genetic backgrounds. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six ClinVar submissions from clinical diagnostic laboratories (evaluations after 2014) cite the variant as "uncertain significance." Some submitters cite overlapping evidence utilized in the context of this evaluation. Therefore, due to the conflicting evidence outlined above, the variant has been classified as VUS-possibly pathogenic.

Comment:

This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 148 of the MEFV protein (p.Glu148Val). This variant is present in population databases (rs104895076, gnomAD 0.04%). This missense change has been observed in individual(s) with familial mediterranean fever (PMID: 17489852, 24469716, 28211254, 28483595, 29735907). ClinVar contains an entry for this variant (Variation ID: 2554). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Comment:

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: 25449140, 31411330, 23289470, 23588594, 28597968, 28483595, 29735907, 26585190, 30783801, 30874249, 30915208, 29756710, 28211254, 27170062, 34426522, 26247045, 35358658, 33576586, 26003477, 32199921, 22451026)

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.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics.	Bozgeyik E	Genomics	2020	PMID: 32199921
Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever/PRINTO classification criteria for familial Mediterranean fever in a referral center.	Tanatar A	Rheumatology international	2020	PMID: 31646357
Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.	Accetturo M	Rheumatology (Oxford, England)	2020	PMID: 31411330
The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).	Gumus E	Journal of clinical medicine	2018	PMID: 29735907
Genetic epidemiology of familial Mediterranean fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa.	Koshy R	Clinical genetics	2018	PMID: 28597968
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.	Papa R	Orphanet journal of rare diseases	2017	PMID: 29047407
MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever.	Cekin N	Gene	2017	PMID: 28483595
Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever.	Sandhya P	International journal of rheumatic diseases	2017	PMID: 28211254
Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever.	Ibrahim JN	European journal of medical genetics	2015	PMID: 26585190
Febrile seizures in children with familial Mediterranean fever: Coincidence or association?	Çomak E	European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society	2015	PMID: 26028444
Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations.	Dogan H	Gene	2015	PMID: 26003477
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.	Oztuzcu S	Molecular biology reports	2014	PMID: 24469716
Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children.	Ozen S	Annals of the rheumatic diseases	2014	PMID: 23463692
MEFV gene mutations in Turkish children with juvenile idiopathic arthritis.	Comak E	European journal of pediatrics	2013	PMID: 23588594
Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schönlein purpura without FMF symptoms.	Dogan CS	Rheumatology international	2013	PMID: 22451026
Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population.	Lainka E	European journal of pediatrics	2012	PMID: 22903357
Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?	Berdeli A	Genetic testing and molecular biomarkers	2011	PMID: 21413889
MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.	Giaglis S	Clinical genetics	2007	PMID: 17489852
Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations.	Lachmann HJ	Rheumatology (Oxford, England)	2006	PMID: 16403826
Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.	-	Medicine	2005	PMID: 15643295
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.	Tchernitchko D	Clinical chemistry	2004	PMID: 15502081
Familial Mediterranean fever.	Konstantopoulos K	The New Zealand medical journal	2004	PMID: 15475974
Genetic testing for familial Mediterranean fever in Austria by means of reverse-hybridization teststrips.	Oberkanins C	Clinical chemistry	2003	PMID: 14578333
Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.	Tchernitchko D	Clinical chemistry	2003	PMID: 14578331
Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.	Medlej-Hashim M	Clinical genetics	2002	PMID: 11903360
click to load more click to collapse

Text-mined citations for rs104895076 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 20, 2024

ClinVar Genomic variation as it relates to human health

NM_000243.3(MEFV):c.443A>T (p.Glu148Val)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs104895076 ...