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NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 19, 2020
Accession:
VCV000030760.5
Variation ID:
30760
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)

Allele ID
39717
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135457660 (GRCh38) GRCh38 UCSC
6: 135778798 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.135457660G>A
NG_008643.2:g.45106C>T
NM_001134830.2:c.985C>T NP_001128302.1:p.Arg329Ter nonsense
... more HGVS
Protein change
R329*
Other names
-
Canonical SPDI
NC_000006.12:135457659:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA259900
OMIM: 608894.0008
dbSNP: rs201391050
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 Mar 14, 2015 RCV000255060.1
Pathogenic 1 criteria provided, single submitter Apr 2, 2019 RCV001074225.1
Pathogenic 1 criteria provided, single submitter Mar 19, 2020 RCV001390240.1
Pathogenic 1 no assertion criteria provided Sep 21, 2011 RCV000023739.3
Pathogenic 1 no assertion criteria provided - RCV001172379.1
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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
632 647

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 14, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000322040.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R329X nonsense variant in the AHI1 gene has been reported previously in a patient with Joubert syndrome who also harbored a second AHI1 mutation … (more)
Pathogenic
(Apr 02, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239798.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Mar 19, 2020)
criteria provided, single submitter
Method: clinical testing
Agenesis of cerebellar vermis
Allele origin: germline
Invitae
Accession: SCV001591909.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Arg329*) in the AHI1 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Sep 21, 2011)
no assertion criteria provided
Method: literature only
JOUBERT SYNDROME 3
Allele origin: germline
OMIM
Accession: SCV000045030.3
Submitted: (Jan 06, 2012)
Evidence details
Publications
PubMed (1)
Pathogenic
(-)
no assertion criteria provided
Method: research
Joubert syndrome with ocular defect
Allele origin: inherited
Laboratory of Genetics in Ophthalmology,Institut Imagine
Accession: SCV001335437.1
Submitted: (May 07, 2020)
Evidence details
Publications
PubMed (3)

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
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Xiong HY Science (New York, N.Y.) 2015 PMID: 25525159
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Najmabadi H Nature 2011 PMID: 21937992
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. Kroes HY European journal of medical genetics 2008 PMID: 18054307
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Valente EM Annals of neurology 2006 PMID: 16453322
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Ferland RJ Nature genetics 2004 PMID: 15322546

Text-mined citations for rs201391050...

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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 Nov 27, 2021