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NM_021625.4(TRPV4):c.1093G>A (p.Val365Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(7);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Apr 12, 2019)
Last evaluated:
May 17, 2018
Accession:
VCV000307133.2
Variation ID:
307133
Description:
single nucleotide variant
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NM_021625.4(TRPV4):c.1093G>A (p.Val365Met)

Allele ID
323237
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109798673 (GRCh38) GRCh38 UCSC
12: 110236478 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110236478C>T
NC_000012.12:g.109798673C>T
NM_001177428.1:c.952G>A NP_001170899.1:p.Val318Met missense
... more HGVS
Protein change
V365M
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00012
The Genome Aggregation Database (gnomAD) 0.00048
The Genome Aggregation Database (gnomAD), exomes 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00049
1000 Genomes Project 0.00060
Links
dbSNP: rs570675468
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000265021.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000280339.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000320172.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000323547.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000374828.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000378278.1
Uncertain significance 1 criteria provided, single submitter Dec 15, 2017 RCV000645559.1
Likely benign 1 criteria provided, single submitter May 17, 2018 RCV000828726.1
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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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth, Type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000376054.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Spondylometaphyseal Dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000376051.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Distal Congenital Nonprogressive Spinal Muscular Atrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000376052.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Scapuloperoneal Spinal Muscular Atrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000376053.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Metatropic Dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000376050.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Brachyolmia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000376055.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Dec 15, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 2C
Allele origin: germline
Invitae
Accession: SCV000767309.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces valine with methionine at codon 365 of the TRPV4 protein (p.Val365Met). The valine residue is moderately conserved and there is a ... (more)
Likely benign
(May 17, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000970426.1
Submitted: (Apr 12, 2019)
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)

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