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NM_018718.3(CEP41):c.423-2A>C

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV000030840.3
Variation ID:
30840
Description:
single nucleotide variant
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NM_018718.3(CEP41):c.423-2A>C

Allele ID
39797
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.2
Genomic location
7: 130402801 (GRCh38) GRCh38 UCSC
7: 130042642 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.130042642T>G
NC_000007.14:g.130402801T>G
NG_032164.1:g.43410A>C
... more HGVS
Protein change
-
Other names
IVS6AS, A-C, -2
Canonical SPDI
NC_000007.14:130402800:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
OMIM: 610523.0003
dbSNP: rs781815473
VarSome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Oct 8, 2020 RCV000023825.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CEP41 - - GRCh38
GRCh37
269 297

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 23, 2018)
criteria provided, single submitter
Method: clinical testing
JOUBERT SYNDROME 15
Allele origin: germline
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV000996177.1
Submitted: (Sep 20, 2019)
Evidence details
Comment:
This variant affects the canonical splice acceptor site of intron 6 and is therefore predicted to interfere with splicing and result in loss of normal … (more)
Pathogenic
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 15
Allele origin: germline
Invitae
Accession: SCV001587214.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects an acceptor splice site in intron 6 of the CEP41 gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Jan 15, 2012)
no assertion criteria provided
Method: literature only
JOUBERT SYNDROME 15
Allele origin: germline
OMIM
Accession: SCV000045116.2
Submitted: (Feb 02, 2012)
Evidence details
Publications
PubMed (1)

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
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Lee JE Nature genetics 2012 PMID: 22246503
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Text-mined citations for rs781815473...

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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 Oct 08, 2021