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NM_001323289.2(CDKL5):c.99+1G>T

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Dec 20, 2017)
Last evaluated:
Nov 1, 2016
Accession:
VCV000156097.2
Variation ID:
156097
Description:
single nucleotide variant
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NM_001323289.2(CDKL5):c.99+1G>T

Allele ID
165893
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.13
Genomic location
X: 18510855 (GRCh38) GRCh38 UCSC
X: 18528975 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.18510855G>T
NM_003159.2:c.99+1G>T splice donor
NC_000023.10:g.18528975G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:18510854:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
RettBASE (CDKL5): 60
ClinGen: CA199419
dbSNP: rs267608421
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 1, 2016 RCV000659286.1
Pathogenic 1 no assertion criteria provided Mar 13, 2014 RCV000170058.2
not provided 1 no assertion provided - RCV000144145.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDKL5 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
766 1266

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
West syndrome
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000781089.1
Submitted: (Dec 20, 2017)
Evidence details
Pathogenic
(Mar 13, 2014)
no assertion criteria provided
Method: curation
Epileptic encephalopathy, early infantile, 2
Allele origin: de novo
RettBASE
Accession: SCV000222367.1
Submitted: (Nov 21, 2014)
Evidence details
Comment:
Bahi-Buisson et al 2008 showed skipping of exon 3
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
RettBASE
Accession: SCV000189222.1
Submitted: (Aug 08, 2012)
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
Key clinical features to identify girls with CDKL5 mutations. Bahi-Buisson N Brain : a journal of neurology 2008 PMID: 18790821

Text-mined citations for rs267608421...

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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