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NM_000431.4(MVK):c.494C>T (p.Pro165Leu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 19, 2019
Accession:
VCV000011933.3
Variation ID:
11933
Description:
single nucleotide variant
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NM_000431.4(MVK):c.494C>T (p.Pro165Leu)

Allele ID
26972
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109581517 (GRCh38) GRCh38 UCSC
12: 110019322 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110019322C>T
NC_000012.12:g.109581517C>T
NG_007702.1:g.12823C>T
... more HGVS
Protein change
P165L
Other names
-
Canonical SPDI
NC_000012.12:109581516:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA121784
OMIM: 251170.0005
dbSNP: rs121917790
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 19, 2019 RCV001219913.2
Pathogenic 1 no assertion criteria provided Jun 1, 1999 RCV000012711.17
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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
Likely pathogenic
(Apr 19, 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: SCV001391878.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces proline with leucine at codon 165 of the MVK protein (p.Pro165Leu). The proline residue is weakly conserved and there is a … (more)
Pathogenic
(Jun 01, 1999)
no assertion criteria provided
Method: literature only
HYPER-IgD SYNDROME
Allele origin: germline
OMIM
Accession: SCV000032946.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
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
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Drenth JP Nature genetics 1999 PMID: 10369262

Text-mined citations for rs121917790...

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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