Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000431.4(MVK):c.1139A>G (p.His380Arg)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 23, 2020
Accession:
VCV000097569.5
Variation ID:
97569
Description:
single nucleotide variant
Help

NM_000431.4(MVK):c.1139A>G (p.His380Arg)

Allele ID
103461
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109596525 (GRCh38) GRCh38 UCSC
12: 110034330 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110034330A>G
NC_000012.12:g.109596525A>G
NG_007702.1:g.27831A>G
... more HGVS
Protein change
H380R, H328R
Other names
-
Canonical SPDI
NC_000012.12:109596524:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA149786
dbSNP: rs104895324
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 23, 2020 RCV000690628.4
Uncertain significance 1 criteria provided, single submitter Apr 8, 2018 RCV000757501.2
not provided 1 no assertion provided - RCV000083821.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 08, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885753.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The MVK c.1139A>G; p.His380Arg variant (rs104895324) is reported in the medical literature in individuals with mevalonate kinase deficiency, hyperimmunoglobulinemia D and periodic fever syndrome (Shendi … (more)
Pathogenic
(Jul 23, 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: SCV000818325.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces histidine with arginine at codon 380 of the MVK protein (p.His380Arg). The histidine residue is moderately 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: SCV000115923.1
Submitted: (Jun 07, 2010)
Comment:
also involved in OMIM 25117
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome. Shendi HM Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2014 PMID: 24561416
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation. Tahara M Modern rheumatology 2011 PMID: 21399979
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
Henoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome. Wickiser JE Pediatric dermatology 2005 PMID: 15804303

Text-mined citations for rs104895324...

Help
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