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NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1); Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2
First in ClinVar:
Nov 9, 2015
Most recent Submission:
Oct 30, 2021
Last evaluated:
Sep 10, 2021
Accession:
VCV000217528.2
Variation ID:
217528
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)

Allele ID
214243
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135438399 (GRCh38) GRCh38 UCSC
6: 135759537 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001134831.2:c.2012C>T MANE Select NP_001128303.1:p.Thr671Ile missense
NM_001134830.2:c.2012C>T NP_001128302.1:p.Thr671Ile missense
NM_001134832.2:c.2012C>T NP_001128304.1:p.Thr671Ile missense
... more HGVS
Protein change
T671I
Other names
-
Canonical SPDI
NC_000006.12:135438398:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA277741
UniProtKB: Q8N157#VAR_076820
dbSNP: rs772989270
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Feb 23, 2015 RCV000201635.1
Uncertain significance 1 criteria provided, single submitter Sep 10, 2021 RCV001731519.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AHI1 - - GRCh38
GRCh37
893 910

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
Method: research
Joubert syndrome 3
Affected status: yes
Allele origin: unknown
UW Hindbrain Malformation Research Program,University of Washington
Additional submitter:
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000256252.1
First in ClinVar: Nov 09, 2015
Last updated: Nov 09, 2015
Publications:
PubMed (1)
PubMed: 26092869
Uncertain significance
(Sep 10, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001982625.1
First in ClinVar: Oct 30, 2021
Last updated: Oct 30, 2021
Comment:
Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect … (more)

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
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Bachmann-Gagescu R Journal of medical genetics 2015 PMID: 26092869

Text-mined citations for rs772989270...

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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 Apr 25, 2022