Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001007792.1(NTRK1):c.123-3404C>T

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(5);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
9 (Most recent: Jul 4, 2021)
Last evaluated:
Jun 1, 2021
Accession:
VCV000234386.14
Variation ID:
234386
Description:
single nucleotide variant
Help

NM_001007792.1(NTRK1):c.123-3404C>T

Allele ID
231444
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156860950 (GRCh38) GRCh38 UCSC
1: 156830742 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156830742C>T
NC_000001.11:g.156860950C>T
NM_002529.3:c.16C>T NP_002520.2:p.Arg6Trp missense
... more HGVS
Protein change
R6W
Other names
NM_001012331.1(NTRK1):c.16C>T(p.Arg6Trp)
NM_002529.3(NTRK1):c.16C>T(p.Arg6Trp)
Canonical SPDI
NC_000001.11:156860949:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00374
Exome Aggregation Consortium (ExAC) 0.00307
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00317
Links
ClinGen: CA1168813
UniProtKB: P04629#VAR_068480
dbSNP: rs201472270
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 1, 2021 RCV000755590.7
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jul 23, 2018 RCV000220958.7
Conflicting interpretations of pathogenicity 5 criteria provided, conflicting interpretations Dec 8, 2020 RCV000299635.9
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NTRK1 - - GRCh38
GRCh37
664 710

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 18, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000279129.8
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(May 31, 2018)
criteria provided, single submitter
Method: curation
Hereditary insensitivity to pain with anhidrosis
Allele origin: unknown
SIB Swiss Institute of Bioinformatics
Accession: SCV000803490.1
Submitted: (Jun 13, 2018)
Evidence details
Comment:
This variant is interpreted as a Likely Benign, for Insensitivity to pain, congenital, with anhidrosis, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: … (more)
Benign
(Sep 13, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000856552.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: unknown
Mendelics
Accession: SCV001135439.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(Jul 23, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000604570.3
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The NTRK1 c.16C>T; p.Arg6Trp variant (rs201472270) is reported in the literature in at least one individual with an inherited neuropathy; however, this variant was not … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000349034.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV000626947.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001147473.6
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Jan 06, 2020)
no assertion criteria provided
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Natera, Inc.
Accession: SCV001455162.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=NTRK1 - - - -

Text-mined citations for rs201472270...

Help
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 Jul 10, 2021