ClinVar Genomic variation as it relates to human health
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
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_000431.4(MVK):c.803T>C (p.Ile268Thr)
Variation ID: 11932 Accession: VCV000011932.46
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 12q24.11 12: 109591275 (GRCh38) [ NCBI UCSC ] 12: 110029080 (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 Mar 6, 2014 Apr 15, 2024 Jan 14, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000431.4:c.803T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000422.1:p.Ile268Thr missense NM_001114185.3:c.803T>C NP_001107657.1:p.Ile268Thr missense NM_001301182.2:c.647T>C NP_001288111.1:p.Ile216Thr missense NC_000012.12:g.109591275T>C NC_000012.11:g.110029080T>C NG_007702.1:g.22581T>C LRG_156:g.22581T>C LRG_156t1:c.803T>C LRG_156p1:p.Ile268Thr Q03426:p.Ile268Thr - Protein change
- I268T, I216T
- Other names
- -
- Canonical SPDI
- NC_000012.12:109591274:T:C
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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.
Exome Aggregation Consortium (ExAC) 0.00011
The Genome Aggregation Database (gnomAD), exomes 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00017
The Genome Aggregation Database (gnomAD) 0.00018
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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MVK | - | - |
GRCh38 GRCh37 |
652 | 747 |
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 (4) |
criteria provided, multiple submitters, no conflicts
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Dec 12, 2023 | RCV000012709.26 | |
Pathogenic (2) |
criteria provided, single submitter
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Nov 15, 2017 | RCV000012710.27 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 17, 2014 | RCV000191109.4 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Jun 20, 2023 | RCV000218157.26 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 16, 2016 | RCV000505909.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 14, 2024 | RCV000698175.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 10, 2022 | RCV002255091.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2020 | RCV002262564.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 25, 2022 | RCV002512988.2 |
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
(Nov 16, 2016)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604325.1
First in ClinVar: Sep 30, 2017 Last updated: Sep 30, 2017 |
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Pathogenic
(Jun 10, 2022)
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criteria provided, single submitter
Method: clinical testing
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MVK-Related Disorders
Affected status: yes
Allele origin:
germline
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DASA
Accession: SCV002526385.1
First in ClinVar: Jun 18, 2022 Last updated: Jun 18, 2022 |
Comment:
The c.803T>C;p.(Ile268Thr) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clivar ID: 11932; PMID: 33917151; 24470648; 28359055; … (more)
The c.803T>C;p.(Ile268Thr) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clivar ID: 11932; PMID: 33917151; 24470648; 28359055; 24084495; 11313769) - PS4.Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 28359055) - PS3_moderate. The variant is present at low allele frequencies population databases (rs104895304– gnomAD 0.001709%; ABraOM no frequency - http://abraom.ib.usp.br/) -PM2_supporting. The p.(Ile268Thr) was detected in trans with a Pathogenic variant (PMID: 33917151; 24470648; 11313769) - PM3_strong. The variant co-segregated with disease in multiple affected family members (PMID: 24084495) - PP1. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is Pathogenic (less)
Number of individuals with the variant: 1
Sex: male
Geographic origin: Brazil
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Pathogenic
(Jan 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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Autoinflammatory syndrome
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002542345.1
First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022 |
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Pathogenic
(Mar 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hyperimmunoglobulin D with periodic fever
Affected status: yes
Allele origin:
germline
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Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
Accession: SCV002754539.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
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Pathogenic
(Feb 15, 2023)
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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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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV004226634.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
PP3, PP4, PM2, PM3, PS3, PS4
Number of individuals with the variant: 1
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Pathogenic
(Dec 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hyperimmunoglobulin D with periodic fever
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004240922.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
Comment:
Variant summary: MVK c.803T>C (p.Ile268Thr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Variant summary: MVK c.803T>C (p.Ile268Thr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00015 in 251464 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in MVK causing Hyper-IgD syndrome (0.00015 vs 0.0056), allowing no conclusion about variant significance. c.803T>C has been reported in the literature in multiple individuals affected with Hyper-IgD syndrome (e.g. Houten_1999, Cuisset_2001, Simon_2006). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function, finding that the variant results in <10% of normal activity (Houten_1999). The following publications have been ascertained in the context of this evaluation (PMID: 10369261, 11313769, 16234278). Nine submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jan 14, 2024)
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criteria provided, single submitter
Method: clinical testing
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Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000826821.7
First in ClinVar: Oct 10, 2018 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 268 of the MVK protein (p.Ile268Thr). … (more)
This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 268 of the MVK protein (p.Ile268Thr). This variant is present in population databases (rs104895304, gnomAD 0.03%). This missense change has been observed in individuals with mevalonate kinase deficiency and hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) (PMID: 10369261, 10401001, 10417275, 11313769, 19011501, 21425920, 23692791, 24470648, 26116953, 27142780, 27213830). ClinVar contains an entry for this variant (Variation ID: 11932). 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 not expected to disrupt MVK protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects MVK function (PMID: 10369261, 10401001, 10417275). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 01, 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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001746157.14
First in ClinVar: Jul 10, 2021 Last updated: Apr 15, 2024 |
Comment:
MVK: PM3:Very Strong, PM2, PS3:Supporting
Number of individuals with the variant: 2
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Pathogenic
(Sep 17, 2014)
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criteria provided, single submitter
Method: clinical testing
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Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria (Autosomal recessive inheritance)
Affected status: unknown, yes
Allele origin:
maternal,
germline
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Baylor Genetics
Study: Adult_WES
Accession: SCV000245512.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
This variant has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic variant [V377I] in a 21-year-old … (more)
This variant has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic variant [V377I] in a 21-year-old female with FTT in infancy, childhood developmental delay, hypermobile joints, muscle soreness, fatigue, obesity, recurrent infections, anemia, anxiety and depression, overbite, flat feet, unexplained fevers, family history of EDS. Variant pathogenic in recessive state; heterozygotes are carriers. (less)
Observation 1:
Number of individuals with the variant: 1
Age: 20-29 years
Sex: female
Ethnicity/Population group: Hispanic Americans
Observation 2:
Number of individuals with the variant: 1
Age: 0-9 years
Sex: female
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Pathogenic
(Nov 15, 2017)
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criteria provided, single submitter
Method: clinical testing
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Mevalonic aciduria
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
maternal
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Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
Accession: SCV000680305.1
First in ClinVar: Feb 08, 2018 Last updated: Feb 08, 2018 |
Sex: female
Tissue: blood
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Pathogenic
(Mar 25, 2022)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003685036.1
First in ClinVar: Feb 07, 2023 Last updated: Feb 07, 2023 |
Comment:
The c.803T>C (p.I268T) alteration is located in exon 9 (coding exon 8) of the MVK gene. This alteration results from a T to C substitution … (more)
The c.803T>C (p.I268T) alteration is located in exon 9 (coding exon 8) of the MVK gene. This alteration results from a T to C substitution at nucleotide position 803, causing the isoleucine (I) at amino acid position 268 to be replaced by a threonine (T). Based on the available evidence, the c.803T>C p.I268T alteration is classified as pathogenic for autosomal recessive mevalonate kinase deficiency; however, the association of this alteration with autosomal dominant MVK-related porokeratosis is unlikely. Based on data from gnomAD, the C allele has an overall frequency of 0.02% (44/282850) total alleles studied. The highest observed frequency was 0.03% (36/129164) of European (non-Finnish) alleles. This alteration has been reported as homozygous and compound heterozygous in multiple unrelated individuals with mevalonate kinase deficiency (Houten, 1999; Houten, 1999; Hinson, 1999; Cuisset, 2001; Sornsakrin, 2009; Gençpnar, 2012; Siemiatkowska, 2013; Jeyaratnam, 2016; Ter Haar, 2016; Dunn, 2018; Munoz, 2019; Correa, 2020; Brennenstuhl, 2021; Steiner, 2011). This amino acid position is well conserved in available vertebrate species. In two different studies involving patient cell lines, cells from two different patients (one homozygote and one compound heterozygote) showed reduced MKase enzymatic activity levels (Houten, 1999; Hinson, 1999). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jun 20, 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: SCV000279122.12
First in ClinVar: May 29, 2016 Last updated: Jul 01, 2023 |
Comment:
Published functional studies demonstrate decreased mevalonate kinase activity as compared with wild type (Houten et al., 1999); In silico analysis supports that this missense variant … (more)
Published functional studies demonstrate decreased mevalonate kinase activity as compared with wild type (Houten et al., 1999); 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: 24088041, 11313768, 15536479, 29290516, 34525209, 34145613, 32060250, 23692791, 21425920, 10369262, 10417275, 11313769, 25897835, 24470648, 26116953, 26990548, 18839211, 10896296, 24084495, 31028937, 31474985, 31589614, 35753512, 19011501, 10369261) (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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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930874.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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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 DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001975859.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Pathogenic
(Apr 01, 2001)
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no assertion criteria provided
Method: literature only
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HYPER-IgD SYNDROME
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000032944.8
First in ClinVar: Apr 04, 2013 Last updated: Jun 10, 2022 |
Comment on evidence:
Hyper-IgD Syndrome In a patient with hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; 260920), Houten et al. (1999) found compound heterozygosity for the V377I mutation … (more)
Hyper-IgD Syndrome In a patient with hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; 260920), Houten et al. (1999) found compound heterozygosity for the V377I mutation (251170.0002) and an ile268-to-thr mutation (I268T). Th I268T mutation was found in compound heterozygous state in a family with HIDS by Drenth et al. (1999). Cuisset et al. (2001) detected the I268T mutation in 7 of 25 unrelated patients with HIDS, including 1 homozygous patient with 7.2% residual enzyme activity. Mevalonic Aciduria In a patient with severe mevalonic aciduria (MEVA; 610377), Houten et al. (1999) found homozygosity for a T-to-C transition at nucleotide 803, resulting in an isoleucine-to-threonine substitution at position 268. No enzymatic activity was identified in fibroblasts, and immunoblot analysis of skin fibroblast lysates detected no protein. (less)
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Pathogenic
(Apr 01, 2001)
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no assertion criteria provided
Method: literature only
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MEVALONIC ACIDURIA
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000032945.8
First in ClinVar: Apr 04, 2013 Last updated: Jun 10, 2022 |
Comment on evidence:
Hyper-IgD Syndrome In a patient with hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; 260920), Houten et al. (1999) found compound heterozygosity for the V377I mutation … (more)
Hyper-IgD Syndrome In a patient with hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; 260920), Houten et al. (1999) found compound heterozygosity for the V377I mutation (251170.0002) and an ile268-to-thr mutation (I268T). Th I268T mutation was found in compound heterozygous state in a family with HIDS by Drenth et al. (1999). Cuisset et al. (2001) detected the I268T mutation in 7 of 25 unrelated patients with HIDS, including 1 homozygous patient with 7.2% residual enzyme activity. Mevalonic Aciduria In a patient with severe mevalonic aciduria (MEVA; 610377), Houten et al. (1999) found homozygosity for a T-to-C transition at nucleotide 803, resulting in an isoleucine-to-threonine substitution at position 268. No enzymatic activity was identified in fibroblasts, and immunoblot analysis of skin fibroblast lysates detected no protein. (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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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808261.1 First in ClinVar: Aug 25, 2021 Last updated: Aug 25, 2021 |
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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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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001956678.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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not provided
(-)
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no classification provided
Method: not provided
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Hyperimmunoglobulin D with periodic fever
Affected status: not provided
Allele origin:
not provided
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Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115986.1
First in ClinVar: Mar 06, 2014 Last updated: Mar 06, 2014 |
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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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Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria. | Brennenstuhl H | Journal of inherited metabolic disease | 2021 | PMID: 34145613 |
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation. | Boursier G | Journal of clinical medicine | 2021 | PMID: 33917151 |
Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings. | Correa ARE | Indian pediatrics | 2020 | PMID: 32060250 |
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency. | Munoz MA | Frontiers in immunology | 2019 | PMID: 31474985 |
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. | Dunn K | Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology | 2018 | PMID: 29290516 |
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency. | Tricarico PM | Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2017 | PMID: 28359055 |
The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry. | Ter Haar NM | Arthritis & rheumatology (Hoboken, N.J.) | 2016 | PMID: 27213830 |
Natural history of mevalonate kinase deficiency: a literature review. | Zhang S | Pediatric rheumatology online journal | 2016 | PMID: 27142780 |
Molecular diagnostic experience of whole-exome sequencing in adult patients. | Posey JE | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26633545 |
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD). | Jeyaratnam J | JIMD reports | 2016 | PMID: 26409462 |
Treatment of adult hyper-IgD syndrome with canakinumab. | Curtis CD | The journal of allergy and clinical immunology. In practice | 2015 | PMID: 26116953 |
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease. | Thors VS | Pediatrics | 2014 | PMID: 24470648 |
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. | Siemiatkowska AM | Ophthalmology | 2013 | PMID: 24084495 |
Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature. | Gençpınar P | The Turkish journal of pediatrics | 2012 | PMID: 23692791 |
Perinatal onset mevalonate kinase deficiency. | Steiner LA | Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society | 2011 | PMID: 21425920 |
B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome. | Sornsakrin M | European journal of pediatrics | 2009 | PMID: 18839211 |
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. | van der Hilst JCH | Medicine | 2008 | PMID: 19011501 |
Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. | Simon A | Rheumatology (Oxford, England) | 2006 | PMID: 16234278 |
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. | Cuisset L | European journal of human genetics : EJHG | 2001 | PMID: 11313769 |
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. | Hinson DD | American journal of human genetics | 1999 | PMID: 10417275 |
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. | Houten SM | Human molecular genetics | 1999 | PMID: 10401001 |
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. | Drenth JP | Nature genetics | 1999 | PMID: 10369262 |
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. | Houten SM | Nature genetics | 1999 | PMID: 10369261 |
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Text-mined citations for rs104895304 ...
HelpRecord last updated Apr 20, 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.