NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 2, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002408638.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)]

NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)

Gene:

CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)

Other names:

NM_001323289.2(CDKL5):c.1892T>C; p.Ile631Thr

HGVS:

NC_000023.11:g.18604816T>C
NG_008475.1:g.184212T>C
NM_001037343.2:c.1892T>C
NM_001323289.2:c.1892T>CMANE SELECT
NM_003159.3:c.1892T>C
NP_001032420.1:p.Ile631Thr
NP_001310218.1:p.Ile631Thr
NP_003150.1:p.Ile631Thr
NP_003150.1:p.Ile631Thr
NC_000023.10:g.18622936T>C
NM_003159.2:c.1892T>C

Protein change:

I631T

Links:

RettBASE (CDKL5): 71; dbSNP: rs144878564

NCBI 1000 Genomes Browser:

rs144878564

Molecular consequence:

NM_001037343.2:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001323289.2:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003159.3:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002723885	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 2, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002723885

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 2, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.

Clin Genet. 2009 Oct;76(4):357-71. doi: 10.1111/j.1399-0004.2009.01194.x. Review.

PubMed [citation]

PMID:: 19793311

Details of each submission

From Ambry Genetics, SCV002723885.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.I631T variant (also known as c.1892T>C), located in coding exon 11 of the CDKL5 gene, results from a T to C substitution at nucleotide position 1892. The isoleucine at codon 631 is replaced by threonine, an amino acid with similar properties. This alteration was detected as maternally inherited in an individual with early onset seizures (Nemos C et al. Clin. Genet., 2009 Oct;76:357-71). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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