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NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 25, 2021)
Last evaluated:
Jul 21, 2020
Accession:
VCV000372441.8
Variation ID:
372441
Description:
single nucleotide variant
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NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)

Allele ID
360004
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p13
Genomic location
11: 31794690 (GRCh38) GRCh38 UCSC
11: 31816238 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.31816238G>A
LRG_720:g.28272C>T
LRG_720t1:c.622C>T
... more HGVS
Protein change
R208W, R247W, R223W, R141W, R222W, R72W, R7W, R155W, R233W, R289W
Other names
-
Canonical SPDI
NC_000011.10:31794689:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs757259413
ClinGen: CA5933833
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 9, 2019 RCV000413794.3
Pathogenic 2 criteria provided, single submitter Jul 21, 2020 RCV000984424.4
Pathogenic 1 criteria provided, single submitter May 21, 2020 RCV001388984.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PAX6 Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
392 576

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 09, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490693.2
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports … (more)
Likely pathogenic
(May 08, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000708115.2
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Jul 21, 2020)
criteria provided, single submitter
Method: clinical testing
Aniridia 1
(Autosomal dominant inheritance)
Allele origin: germline
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV001430017.1
Submitted: (Aug 10, 2020)
Evidence details
Pathogenic
(May 21, 2020)
criteria provided, single submitter
Method: clinical testing
Aniridia 1
Irido-corneo-trabecular dysgenesis
Allele origin: germline
Invitae
Accession: SCV001590181.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces arginine with tryptophan at codon 208 of the PAX6 protein (p.Arg208Trp). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Aug 15, 2019)
no assertion criteria provided
Method: clinical testing
Aniridia 1
(Autosomal dominant inheritance)
Allele origin: inherited
Wessex Regional Genetics Laboratory,Salisbury District Hospital
Accession: SCV001055779.1
Submitted: (Aug 23, 2019)
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
Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. Lim HT Ophthalmology 2012 PMID: 22361317
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Grønskov K European journal of human genetics : EJHG 1999 PMID: 10234503
PAX6 mutations in aniridia. Hanson IM Human molecular genetics 1993 PMID: 8364574
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PAX6 - - - -

Text-mined citations for rs757259413...

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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