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NM_000431.4(MVK):c.484G>A (p.Glu162Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 17, 2019
Accession:
VCV000666070.4
Variation ID:
666070
Description:
single nucleotide variant
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NM_000431.4(MVK):c.484G>A (p.Glu162Lys)

Allele ID
640602
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109581507 (GRCh38) GRCh38 UCSC
12: 110019312 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110019312G>A
NC_000012.12:g.109581507G>A
NG_007702.1:g.12813G>A
... more HGVS
Protein change
E162K
Other names
-
Canonical SPDI
NC_000012.12:109581506:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00000 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
1000 Genomes Project 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs200457031
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 Dec 17, 2019 RCV000824486.3
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001112787.1
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001112786.1
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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
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Mevalonic aciduria
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001270482.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperimmunoglobulin D with periodic fever
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001270483.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Dec 17, 2019)
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: SCV000965385.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 162 of the MVK protein (p.Glu162Lys). The glutamic acid residue is weakly conserved and there … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs200457031...

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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