Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000431.4(MVK):c.863C>T (p.Pro288Leu)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 15, 2021)
Last evaluated:
Aug 9, 2021
Accession:
VCV000097634.4
Variation ID:
97634
Description:
single nucleotide variant
Help

NM_000431.4(MVK):c.863C>T (p.Pro288Leu)

Allele ID
103526
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109591335 (GRCh38) GRCh38 UCSC
12: 110029140 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_156t1:c.863C>T
NC_000012.11:g.110029140C>T
NC_000012.12:g.109591335C>T
... more HGVS
Protein change
P288L, P236L
Other names
-
Canonical SPDI
NC_000012.12:109591334:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA149921
dbSNP: rs104895355
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 10, 2019 RCV000688958.2
Uncertain significance 1 criteria provided, single submitter Aug 9, 2021 RCV001664395.2
not provided 1 no assertion provided - RCV000083886.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 10, 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: SCV000816590.2
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces proline with leucine at codon 288 of the MVK protein (p.Pro288Leu). The proline residue is weakly conserved and there is a … (more)
Uncertain significance
(Aug 09, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001873556.1
Submitted: (Sep 15, 2021)
Evidence details
Comment:
Reported in association with Hyper-IgD syndrome, however, no patient information is available (Turanli et al., 2017); In silico analysis supports that this missense variant does … (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: SCV000115992.1
Submitted: (Jun 07, 2010)
Comment:
also involved in OMIM 25117
Evidence details

Functional evidence

Help
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

Help
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 rs104895355...

Help
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 Sep 23, 2021