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NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: May 26, 2021)
Last evaluated:
Oct 16, 2020
Accession:
VCV000408312.7
Variation ID:
408312
Description:
single nucleotide variant
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NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)

Allele ID
390740
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10320086 (GRCh38) GRCh38 UCSC
1: 10380144 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.10380144C>T
LRG_252:g.114381C>T
LRG_252t2:c.2159C>T LRG_252p2:p.Thr720Ile
... more HGVS
Protein change
T674I, T720I
Other names
-
Canonical SPDI
NC_000001.11:10320085:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00022
The Genome Aggregation Database (gnomAD), exomes 0.00014
The Genome Aggregation Database (gnomAD) 0.00029
Exome Aggregation Consortium (ExAC) 0.00009
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Links
ClinGen: CA581460
dbSNP: rs41274468
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 Jul 13, 2020 RCV000467791.6
Uncertain significance 1 criteria provided, single submitter Mar 16, 2018 RCV000760166.2
Uncertain significance 1 criteria provided, single submitter - RCV001174207.1
Uncertain significance 1 criteria provided, single submitter Oct 16, 2020 RCV001507419.1
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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
(Mar 16, 2018)
criteria provided, single submitter
Method: research
Charcot-Marie-Tooth disease, type 2A1
(Autosomal dominant inheritance)
Allele origin: germline
Center for Precision Medicine,Vanderbilt University Medical Center
Accession: SCV000889984.1
Submitted: (Jun 14, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jul 13, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV000547914.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces threonine with isoleucine at codon 674 of the KIF1B protein (p.Thr674Ile). The threonine residue is moderately conserved and there is a … (more)
Uncertain significance
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001337333.1
Submitted: (Apr 07, 2020)
Evidence details
Uncertain significance
(Oct 16, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001712962.1
Submitted: (May 26, 2021)
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
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Bastarache L Science (New York, N.Y.) 2018 PMID: 29590070
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
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 rs41274468...

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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