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NM_001007792.1(NTRK1):c.1193C>T (p.Thr398Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 28, 2020)
Last evaluated:
Aug 29, 2018
Accession:
VCV000569204.3
Variation ID:
569204
Description:
single nucleotide variant
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NM_001007792.1(NTRK1):c.1193C>T (p.Thr398Met)

Allele ID
556630
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156874955 (GRCh38) GRCh38 UCSC
1: 156844747 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156844747C>T
NC_000001.11:g.156874955C>T
NM_001007792.1:c.1193C>T NP_001007793.1:p.Thr398Met missense
... more HGVS
Protein change
T428M, T398M, T434M
Other names
-
Canonical SPDI
NC_000001.11:156874954:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs771342578
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Aug 29, 2018 RCV000689778.3
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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
677 723

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 29, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV000817444.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces threonine with methionine at codon 428 of the NTRK1 protein (p.Thr428Met). The threonine residue is weakly 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: SCV001459295.1
Submitted: (Dec 28, 2020)
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
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 rs771342578...

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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 Aug 27, 2021