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NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 20, 2017)
Last evaluated:
Jun 22, 2016
Accession:
VCV000433145.1
Variation ID:
433145
Description:
single nucleotide variant
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NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp)

Allele ID
426721
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109784375 (GRCh38) GRCh38 UCSC
12: 110222180 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_021625.4:c.2399G>A NP_067638.3:p.Gly800Asp missense
LRG_372:g.54033G>A
LRG_372t1:c.2399G>A LRG_372p1:p.Gly800Asp
... more HGVS
Protein change
G800D, G766D, G693D, G740D, G753D
Other names
-
Canonical SPDI
NC_000012.12:109784374:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA386648807
dbSNP: rs1555204615
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 Jun 22, 2016 RCV000498155.1
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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
672 688

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 22, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
Accession: SCV000590829.1
Submitted: (Jan 20, 2017)
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 mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. Hurd L American journal of medical genetics. Part A 2015 PMID: 26249260

Text-mined citations for rs1555204615...

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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 24, 2021