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NM_021625.4(TRPV4):c.940A>G (p.Met314Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Aug 12, 2017
Accession:
VCV000536860.1
Variation ID:
536860
Description:
single nucleotide variant
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NM_021625.4(TRPV4):c.940A>G (p.Met314Val)

Allele ID
526659
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109798826 (GRCh38) GRCh38 UCSC
12: 110236631 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110236631T>C
NC_000012.12:g.109798826T>C
NM_001177428.1:c.799A>G NP_001170899.1:p.Met267Val missense
... more HGVS
Protein change
M314V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
dbSNP: rs151101009
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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 Aug 12, 2017 RCV000645544.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TRPV4 - - GRCh38
GRCh37
385 397

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 12, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 2C
Allele origin: germline
Invitae
Accession: SCV000767293.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces methionine with valine at codon 314 of the TRPV4 protein (p.Met314Val). The methionine residue is weakly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 11, 2019