NM_000431.4(MVK):c.1139A>G (p.His380Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000757501.2

Allele description [Variation Report for NM_000431.4(MVK):c.1139A>G (p.His380Arg)]

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

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.1139A>G (p.His380Arg)
HGVS:
  • NC_000012.12:g.109596525A>G
  • NG_007702.1:g.27831A>G
  • NM_000431.4:c.1139A>GMANE SELECT
  • NM_001114185.3:c.1139A>G
  • NM_001301182.2:c.983A>G
  • NP_000422.1:p.His380Arg
  • NP_001107657.1:p.His380Arg
  • NP_001288111.1:p.His328Arg
  • LRG_156:g.27831A>G
  • NC_000012.11:g.110034330A>G
  • NM_000431.1:c.1139A>G
  • NM_000431.3:c.1139A>G
Protein change:
H328R
Links:
dbSNP: rs104895324
NCBI 1000 Genomes Browser:
rs104895324
Molecular consequence:
  • NM_000431.4:c.1139A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.1139A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301182.2:c.983A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000885753ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Apr 8, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000885753.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 2014, Tahara 2011, Wickiser 2005). The variant is reported in the ClinVar database (Variation ID: 97569). This variant is found in the non-Finnish European population with an overall allele frequency of 0.007% (10/126246 alleles) in the Genome Aggregation Database. The histidine at codon 380 is moderately conserved across species but computational algorithms (PolyPhen-2, SIFT) predict conflicting effects of this variant on protein structure/function. Considering available information, the clinical significance of this variant cannot be determined with certainty. Pathogenic MVK variants are causative for autosomal recessive hyper IgD syndrome (MIM: 260920) and mevalonic aciduria (MIM: 610377). References: Shendi HM et al. Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome. J Clin Rheumatol. 2014 Mar;20(2):103-5. Tahara M et al. Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation. Mod Rheumatol. 2011 Dec;21(6):641-5. Wickiser JE and Saulsbury FT. Henoch-Schonlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome. Pediatr Dermatol. 2005 Mar-Apr;22(2):138-41.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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