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NM_001007792.1(NTRK1):c.1752_1753insT (p.Pro585fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 21, 2021)
Last evaluated:
Sep 5, 2019
Accession:
VCV000021306.3
Variation ID:
21306
Description:
1bp insertion
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NM_001007792.1(NTRK1):c.1752_1753insT (p.Pro585fs)

Allele ID
34158
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156879176-156879177 (GRCh38) GRCh38 UCSC
1: 156848968-156848969 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_261:g.68427_68428insT
NC_000001.10:g.156848968_156848969insT
NC_000001.11:g.156879176_156879177insT
... more HGVS
Protein change
P585fs, P621fs, P615fs
Other names
-
Canonical SPDI
NC_000001.11:156879176::T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA341876
dbSNP: rs80356676
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Sep 5, 2019 RCV000020469.2
Pathogenic 1 criteria provided, single submitter May 18, 2018 RCV000479042.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NTRK1 - - GRCh38
GRCh37
672 718

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 05, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: unknown
Baylor Genetics
Accession: SCV001520941.1
Submitted: (Feb 21, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing in multiple individuals [PMID: … (more)
Pathogenic
(May 18, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000565335.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1842_1843insT variant in the NTRK1 gene has been reported previously in association with congenital insensitivity to pain with anhidrosis (CIPA) (Shatzky et al., 2000). … (more)
pathologic
(Aug 05, 2008)
no assertion criteria provided
Method: curation
Hereditary Sensory and Autonomic Neuropathy Type IV
Allele origin: not provided
GeneReviews
Accession: SCV000040902.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

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
<i>NTRK1</i> Congenital Insensitivity to Pain with Anhidrosis Indo Y - 2020 PMID: 20301726
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype. Altassan R American journal of medical genetics. Part A 2017 PMID: 28328124
Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor. Beigelman A Clinical immunology (Orlando, Fla.) 2009 PMID: 18955016
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. Indo Y Human mutation 2001 PMID: 11668614
Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Shatzky S American journal of medical genetics 2000 PMID: 10861667

Text-mined citations for rs80356676...

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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 Mar 28, 2021