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NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 2020
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:
RCV002417373.5

Allele description [Variation Report for NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)]

NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)

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.2012T>C (p.Leu671Pro)
HGVS:
  • NC_000012.12:g.109788596A>G
  • NG_017090.1:g.49812T>C
  • NM_001177428.1:c.1871T>C
  • NM_001177431.1:c.1910T>C
  • NM_001177433.1:c.1691T>C
  • NM_021625.5:c.2012T>CMANE SELECT
  • NM_147204.2:c.1832T>C
  • NP_001170899.1:p.Leu624Pro
  • NP_001170902.1:p.Leu637Pro
  • NP_001170904.1:p.Leu564Pro
  • NP_067638.3:p.Leu671Pro
  • NP_067638.3:p.Leu671Pro
  • NP_671737.1:p.Leu611Pro
  • LRG_372t1:c.2012T>C
  • LRG_372:g.49812T>C
  • LRG_372p1:p.Leu671Pro
  • NC_000012.11:g.110226401A>G
  • NM_021625.4:c.2012T>C
Protein change:
L564P
Molecular consequence:
  • NM_001177428.1:c.1871T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.1910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.1691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.5:c.2012T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002720299Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 18, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002720299.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.L671P variant (also known as c.2012T>C), located in coding exon 12 of the TRPV4 gene, results from a T to C substitution at nucleotide position 2012. The leucine at codon 671 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024