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NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Nov 4, 2021)
Last evaluated:
Nov 3, 2021
Accession:
VCV000217545.3
Variation ID:
217545
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)

Allele ID
214237
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135433120 (GRCh38) GRCh38 UCSC
6: 135754258 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135754258A>G
NC_000006.12:g.135433120A>G
NG_008643.2:g.69646T>C
... more HGVS
Protein change
W725R
Other names
-
Canonical SPDI
NC_000006.12:135433119:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA279352
dbSNP: rs863225144
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Nov 3, 2021 RCV000201537.2
Uncertain significance 1 criteria provided, single submitter Oct 11, 2018 RCV000817125.1
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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
626 641

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
Method: research
Joubert syndrome 3
Allele origin: unknown
UW Hindbrain Malformation Research Program,University of Washington
Additional submitter:
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000256271.1
Submitted: (Sep 16, 2015)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Oct 11, 2018)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome
Allele origin: germline
Invitae
Accession: SCV000957670.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces tryptophan with arginine at codon 725 of the AHI1 protein (p.Trp725Arg). The tryptophan residue is highly conserved and there is a … (more)
Pathogenic
(Nov 03, 2021)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
Allele origin: germline
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002010698.1
Submitted: (Nov 04, 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
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 rs863225144...

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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 20, 2021