NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 23, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002406606.2

Allele description [Variation Report for NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)]

NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)

Gene:

TRPV4:transient receptor potential cation channel subfamily V member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)

HGVS:

NC_000012.12:g.109814613C>T
NG_017090.1:g.23795G>A
NM_001177428.1:c.184G>A
NM_001177431.1:c.82G>A
NM_001177433.1:c.184G>A
NM_021625.5:c.184G>AMANE SELECT
NM_147204.2:c.184G>A
NP_001170899.1:p.Asp62Asn
NP_001170902.1:p.Asp28Asn
NP_001170904.1:p.Asp62Asn
NP_067638.3:p.Asp62Asn
NP_067638.3:p.Asp62Asn
NP_671737.1:p.Asp62Asn
LRG_372t1:c.184G>A
LRG_372:g.23795G>A
LRG_372p1:p.Asp62Asn
NC_000012.11:g.110252418C>T
NM_021625.4:c.184G>A

Protein change:

D28N

Links:

dbSNP: rs770149544

NCBI 1000 Genomes Browser:

rs770149544

Molecular consequence:

NM_001177428.1:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001177431.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001177433.1:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021625.5:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_147204.2:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002715163	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 23, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25900305, 26392352, 28251916 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002715163

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 23, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Phenotypic variability of TRPV4 related neuropathies.

Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R.

Neuromuscul Disord. 2015 Jun;25(6):516-21. doi: 10.1016/j.nmd.2015.03.007. Epub 2015 Mar 18.

PubMed [citation]

PMID:: 25900305
PMCID:: PMC4454778

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S.

BMC Med Genet. 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8.

PubMed [citation]

PMID:: 26392352
PMCID:: PMC4578331

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002715163.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.D62N variant (also known as c.184G>A), located in coding exon 1 of the TRPV4 gene, results from a G to A substitution at nucleotide position 184. The aspartic acid at codon 62 is replaced by asparagine, an amino acid with highly similar properties. This variant was detected in an individual with Charcot-Marie-Tooth disease type 2C and her brother with bilateral talipes (Evangelista T et al. Neuromuscul Disord, 2015 Jun;25:516-21). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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