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NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) AND Neuronopathy, distal hereditary motor, autosomal dominant

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000789585.9

Allele description [Variation Report for NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)]

NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)

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.943C>T (p.Arg315Trp)
HGVS:
  • NC_000012.12:g.109798823G>A
  • NG_017090.1:g.39585C>T
  • NM_001177428.1:c.802C>T
  • NM_001177431.1:c.841C>T
  • NM_001177433.1:c.802C>T
  • NM_021625.5:c.943C>TMANE SELECT
  • NM_147204.2:c.943C>T
  • NP_001170899.1:p.Arg268Trp
  • NP_001170902.1:p.Arg281Trp
  • NP_001170904.1:p.Arg268Trp
  • NP_067638.3:p.Arg315Trp
  • NP_067638.3:p.Arg315Trp
  • NP_671737.1:p.Arg315Trp
  • LRG_372t1:c.943C>T
  • LRG_372:g.39585C>T
  • LRG_372p1:p.Arg315Trp
  • NC_000012.11:g.110236628G>A
  • NM_021625.3:c.943C>T
  • NM_021625.4:c.943C>T
  • NM_021625.5:c.943C>T
  • Q9HBA0:p.Arg315Trp
Protein change:
R268W; ARG315TRP
Links:
UniProtKB: Q9HBA0#VAR_063541; OMIM: 605427.0008; dbSNP: rs267607143
NCBI 1000 Genomes Browser:
rs267607143
Molecular consequence:
  • NM_001177428.1:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.5:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuronopathy, distal hereditary motor, autosomal dominant
Synonyms:
Autosomal dominant distal hereditary motor neuropathy
Identifiers:
MONDO: MONDO:0015362; MedGen: C5548212; Orphanet: 140465; OMIM: PS182960

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928941Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, et al.

Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.

PubMed [citation]
PMID:
20037588
PMCID:
PMC3272392

Details of each submission

From Inherited Neuropathy Consortium, SCV000928941.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 8, 2025