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NM_000431.4(MVK):c.876C>T (p.Leu292=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Sep 23, 2021)
Last evaluated:
Jul 23, 2020
Accession:
VCV000246330.11
Variation ID:
246330
Description:
single nucleotide variant
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NM_000431.4(MVK):c.876C>T (p.Leu292=)

Allele ID
244712
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109591348 (GRCh38) GRCh38 UCSC
12: 110029153 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_156:g.22654C>T
LRG_156t1:c.876C>T
NC_000012.11:g.110029153C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:109591347:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00025
Trans-Omics for Precision Medicine (TOPMed) 0.00018
Exome Aggregation Consortium (ExAC) 0.00021
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00018
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA6779399
dbSNP: rs370301290
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 26, 2019 RCV000237041.2
Likely benign 1 criteria provided, single submitter Jul 23, 2020 RCV000933984.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001110866.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001110101.1
Likely benign 3 no assertion criteria provided - RCV001528660.4
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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 benign
(Feb 11, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000293839.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Feb 26, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157726.1
Submitted: (Aug 05, 2019)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Mevalonic aciduria
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001267495.1
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 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperimmunoglobulin D with periodic fever
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001268350.1
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)
Likely benign
(Jul 23, 2020)
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: SCV001079694.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001970324.1
Submitted: (Sep 21, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740782.3
Submitted: (Sep 02, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001929706.1
Submitted: (Sep 23, 2021)
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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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 rs370301290...

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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 07, 2021