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NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV000155749.4
Variation ID:
155749
Description:
single nucleotide variant
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NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)

Allele ID
165503
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10337518 (GRCh38) GRCh38 UCSC
1: 10397576 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_252:g.131813T>C
LRG_252t2:c.3407T>C LRG_252p2:p.Ile1136Thr
LRG_252t1:c.3269T>C LRG_252p1:p.Ile1090Thr
... more HGVS
Protein change
I1090T, I1136T
Other names
-
Canonical SPDI
NC_000001.11:10337517:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00016
Exome Aggregation Consortium (ExAC) 0.00007
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
ClinGen: CA233110
dbSNP: rs374098797
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 1, 2020 RCV001065481.2
Uncertain significance 1 criteria provided, single submitter - RCV001173597.1
Benign 1 no assertion criteria provided - RCV000143820.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KIF1B - - GRCh38
GRCh37
702 740

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336697.1
Submitted: (Apr 07, 2020)
Evidence details
Uncertain significance
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV001230439.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces isoleucine with threonine at codon 1090 of the KIF1B protein (p.Ile1090Thr). The isoleucine residue is moderately conserved and there is a … (more)
non-pathogenic
(-)
no assertion criteria provided
Method: not provided
not provided
Allele origin: not provided
Northcott Neuroscience Laboratory, ANZAC Research Institute
Accession: SCV000188714.1
Submitted: (Sep 02, 2014)
Comment:
CMT2
Evidence details
Comment:
Converted during submission to Benign.

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
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. Kobayashi Y Genome medicine 2017 PMID: 28166811

Text-mined citations for rs374098797...

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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 Oct 30, 2021