NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) AND Atypical Rett syndrome

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000169986.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)]

NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)

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.532C>T (p.Arg178Trp)
Other names:
p.R178W:CGG>TGG
HGVS:
  • NC_000023.11:g.18584331C>T
  • NG_008475.1:g.163727C>T
  • NM_001037343.2:c.532C>T
  • NM_001323289.2:c.532C>TMANE SELECT
  • NM_003159.2:c.532C>T
  • NM_003159.3:c.532C>T
  • NP_001032420.1:p.Arg178Trp
  • NP_001310218.1:p.Arg178Trp
  • NP_003150.1:p.Arg178Trp
  • NP_003150.1:p.Arg178Trp
  • NC_000023.10:g.18602451C>T
  • p.(Arg178Trp)
Protein change:
R178W
Links:
RettBASE (CDKL5): 69; dbSNP: rs267608493
NCBI 1000 Genomes Browser:
rs267608493
Molecular consequence:
  • NM_001037343.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atypical Rett syndrome
Synonyms:
Rett like syndrome
Identifiers:
MONDO: MONDO:0017746; MedGen: C2748910

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000222291RettBASEno assertion criteria providedLikely pathogenic
(May 15, 2014)
unknowncuration

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

SCV000781090Center for Human Genetics, Inc,Center for Human Genetics, Inccriteria provided, single submitter
Pathogenic
(Nov 1, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownyes2not providednot provided2not providedcuration

Citations

PubMed

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, et al.

Neuropediatrics. 2012 Feb;43(1):37-43. doi: 10.1055/s-0032-1308856. Epub 2012 Mar 19. Erratum in: Neuropediatrics. 2013 Aug;44(4):237.

PubMed [citation]
PMID:
22430159

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From RettBASE, SCV000222291.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)
2not provided1not providednot providedcuration PubMed (1)

Description

Rett syndrome - congenital onset

"Rett syndrome - Hanefeld"

Description

In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided
2unknownyes1not providednot provided1not providednot providednot provided

From Center for Human Genetics, Inc,Center for Human Genetics, Inc, SCV000781090.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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