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NM_000431.4(MVK):c.644G>A (p.Arg215Gln)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 1, 2020
Accession:
VCV000097608.2
Variation ID:
97608
Description:
single nucleotide variant
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NM_000431.4(MVK):c.644G>A (p.Arg215Gln)

Allele ID
103500
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109586766 (GRCh38) GRCh38 UCSC
12: 110024571 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110024571G>A
NC_000012.12:g.109586766G>A
NG_007702.1:g.18072G>A
... more HGVS
Protein change
R215Q, R163Q
Other names
-
Canonical SPDI
NC_000012.12:109586765:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA149870
UniProtKB: Q03426#VAR_010963
dbSNP: rs104895303
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 1, 2020 RCV001383593.1
not provided 1 no assertion provided - RCV000083860.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MVK - - GRCh38
GRCh37
333 369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 01, 2020)
criteria provided, single submitter
Method: clinical testing
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Allele origin: germline
Invitae
Accession: SCV001582786.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces arginine with glutamine at codon 215 of the MVK protein (p.Arg215Gln). The arginine residue is weakly conserved and there is a … (more)
not provided
(-)
no assertion provided
Method: not provided
Hyperimmunoglobulin D with periodic fever
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115965.1
Submitted: (Jun 07, 2010)
Comment:
also involved in OMIM 25117
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
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
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
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. D'Osualdo A European journal of human genetics : EJHG 2005 PMID: 15536479
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

Text-mined citations for rs104895303...

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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 08, 2021