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.2035G>A (p.Val679Met)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 28, 2020)
Last evaluated:
Apr 25, 2018
Accession:
VCV000570536.2
Variation ID:
570536
Description:
single nucleotide variant
Help

NM_001007792.1(NTRK1):c.2035G>A (p.Val679Met)

Allele ID
556640
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156880095 (GRCh38) GRCh38 UCSC
1: 156849887 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156849887G>A
NC_000001.11:g.156880095G>A
NM_001007792.1:c.2035G>A NP_001007793.1:p.Val679Met missense
... more HGVS
Protein change
V709M, V679M, V715M
Other names
-
Canonical SPDI
NC_000001.11:156880094:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs759190964
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 Apr 25, 2018 RCV000691409.2
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
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV000819187.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with methionine at codon 709 of the NTRK1 protein (p.Val709Met). The valine residue is highly conserved and there is a … (more)
Uncertain significance
(Apr 18, 2020)
no assertion criteria provided
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Natera, Inc.
Accession: SCV001463413.1
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs759190964...

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 Aug 27, 2021