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NM_001007792.1(NTRK1):c.1838G>A (p.Arg613Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 22, 2019
Accession:
VCV000190988.3
Variation ID:
190988
Description:
single nucleotide variant
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NM_001007792.1(NTRK1):c.1838G>A (p.Arg613Gln)

Allele ID
188794
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156879262 (GRCh38) GRCh38 UCSC
1: 156849054 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.156879262G>A
NC_000001.10:g.156849054G>A
NM_001012331.1:c.1928G>A NP_001012331.1:p.Arg643Gln missense
... more HGVS
Protein change
R613Q, R643Q, R649Q
Other names
-
Canonical SPDI
NC_000001.11:156879261:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA235758
dbSNP: rs786205449
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 22, 2019 RCV001235402.2
Likely pathogenic 1 no assertion criteria provided - RCV000171160.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NTRK1 - - GRCh38
GRCh37
677 723

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 22, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV001408085.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces arginine with glutamine at codon 643 of the NTRK1 protein (p.Arg643Gln). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Not provided
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000221356.1
Submitted: (Apr 14, 2015)
Evidence details

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
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. Geng X Molecular pain 2018 PMID: 29770739
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype. Altassan R American journal of medical genetics. Part A 2017 PMID: 28328124
Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. Li M Genetics and molecular research : GMR 2012 PMID: 22653642
Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations. Miranda C The Journal of biological chemistry 2002 PMID: 11719521
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Mardy S Human molecular genetics 2001 PMID: 11159935
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Mardy S American journal of human genetics 1999 PMID: 10330344

Text-mined citations for rs786205449...

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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 Apr 12, 2021