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.500A>G (p.Lys167Arg)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 26, 2019
Accession:
VCV000864529.3
Variation ID:
864529
Description:
single nucleotide variant
Help

NM_001007792.1(NTRK1):c.500A>G (p.Lys167Arg)

Allele ID
822839
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156868520 (GRCh38) GRCh38 UCSC
1: 156838312 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156838312A>G
NC_000001.11:g.156868520A>G
NM_001007792.1:c.500A>G NP_001007793.1:p.Lys167Arg missense
... more HGVS
Protein change
K167R, K197R
Other names
-
Canonical SPDI
NC_000001.11:156868519:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Jan 26, 2019 RCV001071741.3
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 26, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV001237061.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with arginine at codon 197 of the NTRK1 protein (p.Lys197Arg). The lysine residue is moderately conserved and there is a … (more)
Uncertain significance
(Apr 17, 2020)
no assertion criteria provided
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Natera, Inc.
Accession: SCV001459282.1
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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 27, 2021