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NM_000431.4(MVK):c.442G>A (p.Ala148Thr)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Apr 1, 2015
Accession:
VCV000097592.2
Variation ID:
97592
Description:
single nucleotide variant
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NM_000431.4(MVK):c.442G>A (p.Ala148Thr)

Allele ID
103484
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109581465 (GRCh38) GRCh38 UCSC
12: 110019270 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110019270G>A
NC_000012.12:g.109581465G>A
NM_000431.4:c.442G>A MANE Select NP_000422.1:p.Ala148Thr missense
... more HGVS
Protein change
A148T
Other names
-
Canonical SPDI
NC_000012.12:109581464:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA149834
UniProtKB: Q03426#VAR_010960
dbSNP: rs104895298
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 1, 2015 RCV000214102.1
not provided 1 no assertion provided - RCV000083844.1
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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
Pathogenic
(Apr 01, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000279118.8
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The A148T missense mutation in the MVK gene has been reported previously in association with Hyper IgD syndrome (HIDS) (Houten et al., 2001). Another missense … (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: SCV000115946.1
Submitted: (Jun 07, 2010)
Comment:
also involved in OMIM 25117
Evidence details

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
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Houten SM European journal of human genetics : EJHG 2001 PMID: 11313768

Text-mined citations for rs104895298...

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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 Feb 27, 2021