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NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 8, 2018)
Last evaluated:
Jul 1, 2018
Accession:
VCV000160162.2
Variation ID:
160162
Description:
single nucleotide variant
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NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg)

Allele ID
168994
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.12
Genomic location
12: 49185668 (GRCh38) GRCh38 UCSC
12: 49579451 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.49579451T>C
NC_000012.12:g.49185668T>C
NM_001270399.1:c.698A>G NP_001257328.1:p.Gln233Arg missense
... more HGVS
Protein change
Q233R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs587784492
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 8, 2013 RCV000147816.1
Likely pathogenic 1 criteria provided, single submitter Jul 1, 2018 RCV000767504.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TUBA1A No evidence available No evidence available GRCh38
GRCh37
181 191

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 08, 2013)
criteria provided, single submitter
Method: clinical testing
Lissencephaly 3
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000195289.1
Submitted: (Sep 11, 2014)
Evidence details
Likely pathogenic
(Jul 01, 2018)
criteria provided, single submitter
Method: literature only
Tubulinopathies
Allele origin: germline
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg
Accession: SCV000898119.1
Submitted: (Oct 08, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1101/427948
Comment:
A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.698A>G, p.(Gln233Arg) ... (more)

Citations for this variant

Title Author Journal Year Link
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Hebebrand M Orphanet journal of rare diseases 2019 PMID: 30744660
- - - - DOI: 10.1101/427948

Record last updated Aug 25, 2019