NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln) AND Developmental and epileptic encephalopathy, 9

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2022
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:: RCV002291243.1

Allele description [Variation Report for NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)]

NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)

Gene:

PCDH19:protocadherin 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)

HGVS:

NC_000023.11:g.100408003C>G
NG_021319.1:g.7271G>C
NM_001105243.2:c.595G>C
NM_001184880.2:c.595G>CMANE SELECT
NM_020766.3:c.595G>C
NP_001098713.1:p.Glu199Gln
NP_001171809.1:p.Glu199Gln
NP_065817.2:p.Glu199Gln
LRG_843t1:c.595G>C
LRG_843:g.7271G>C
LRG_843p1:p.Glu199Gln
NC_000023.10:g.99663001C>G

Protein change:

E199Q

Molecular consequence:

NM_001105243.2:c.595G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001184880.2:c.595G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020766.3:c.595G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 9 (DEE9)
Synonyms:: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; JUBERG-HELLMAN SYNDROME; PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010246; MedGen: C1848137; Orphanet: 2076; OMIM: 300088

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002583537	Pediatric Department, Peking University First Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 1, 2022)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 19214208, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002583537

Pediatric Department, Peking University First Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 1, 2022)

de novo

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, et al.

PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. Erratum in: PLoS Genet. 2009 Apr;5(4). doi: 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8ece3a.

PubMed [citation]

PMID:: 19214208
PMCID:: PMC2633044

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 Pediatric Department, Peking University First Hospital, SCV002583537.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

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

Last Updated: Aug 5, 2023

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