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NM_020988.3(GNAO1):c.723+1G>A AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 5, 2021
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:
RCV001862728.4

Allele description [Variation Report for NM_020988.3(GNAO1):c.723+1G>A]

NM_020988.3(GNAO1):c.723+1G>A

Gene:
GNAO1:G protein subunit alpha o1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_020988.3(GNAO1):c.723+1G>A
HGVS:
  • NC_000016.10:g.56336861G>A
  • NG_042800.1:g.150523G>A
  • NM_020988.3:c.723+1G>AMANE SELECT
  • NM_138736.3:c.723+1G>A
  • NC_000016.9:g.56370773G>A
  • NC_000016.9:g.56370773G>A
  • NM_020988.2:c.723+1G>A
Links:
dbSNP: rs1596872804
NCBI 1000 Genomes Browser:
rs1596872804
Molecular consequence:
  • NM_020988.3:c.723+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_138736.3:c.723+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:
Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:
MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002243326Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 5, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R.

Neurol Genet. 2017 Apr;3(2):e143. doi: 10.1212/NXG.0000000000000143.

PubMed [citation]
PMID:
28357411
PMCID:
PMC5362187

Large-scale discovery of novel genetic causes of developmental disorders.

Deciphering Developmental Disorders Study..

Nature. 2015 Mar 12;519(7542):223-8. doi: 10.1038/nature14135. Epub 2014 Dec 24.

PubMed [citation]
PMID:
25533962
PMCID:
PMC5955210
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV002243326.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with neurodevelopmental disorder with involuntary movements (PMID: 28357411, 25533962). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 812780). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 6 of the GNAO1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GNAO1 cause disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024