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NM_000431.4(MVK):c.119G>A (p.Arg40Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 10, 2018)
Last evaluated:
Apr 25, 2018
Accession:
VCV000579239.2
Variation ID:
579239
Description:
single nucleotide variant
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NM_000431.4(MVK):c.119G>A (p.Arg40Gln)

Allele ID
571185
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109576038 (GRCh38) GRCh38 UCSC
12: 110013843 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_156:g.7344G>A
NC_000012.11:g.110013843G>A
NC_000012.12:g.109576038G>A
... more HGVS
Protein change
R40Q
Other names
-
Canonical SPDI
NC_000012.12:109576037:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
dbSNP: rs373095009
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 30, 2018 RCV000702475.1
Uncertain significance 1 criteria provided, single submitter Apr 25, 2018 RCV000757502.2
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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
Uncertain significance
(Jan 30, 2018)
criteria provided, single submitter
Method: clinical testing
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis, disseminated superficial actinic 1
Allele origin: germline
Invitae
Accession: SCV000831331.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with glutamine at codon 40 of the MVK protein (p.Arg40Gln). The arginine residue is moderately conserved and there is a … (more)
Uncertain significance
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885754.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The MVK c.119G>A; p.Arg40Gln variant (rs373095009), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in … (more)

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
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

Text-mined citations for rs373095009...

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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