U.S. flag

An official website of the United States government

NM_006950.3(SYN1):c.1406dup (p.Pro470fs) AND Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 22, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002291327.2

Allele description [Variation Report for NM_006950.3(SYN1):c.1406dup (p.Pro470fs)]

NM_006950.3(SYN1):c.1406dup (p.Pro470fs)

Gene:
SYN1:synapsin I [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.3
Genomic location:
Preferred name:
NM_006950.3(SYN1):c.1406dup (p.Pro470fs)
HGVS:
  • NC_000023.11:g.47574578dup
  • NG_008437.1:g.50280dup
  • NM_006950.3:c.1406dupMANE SELECT
  • NM_133499.2:c.1406dup
  • NP_008881.2:p.Pro470fs
  • NP_598006.1:p.Pro470fs
  • NC_000023.10:g.47433977dup
  • NM_006950.3:c.1406dupAMANE SELECT
Protein change:
P470fs
Links:
OMIM: 313440.0009
Molecular consequence:
  • NM_006950.3:c.1406dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133499.2:c.1406dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Synonyms:
Epilepsy, X-linked, with variable learning disabilities and behavior disorders; X-linked epilepsy-learning disabilities-behavior disorders syndrome
Identifiers:
MONDO: MONDO:0010339; MedGen: C5774177; Orphanet: 85294; OMIM: 300491

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002583589OMIM
no assertion criteria provided
Pathogenic
(Nov 22, 2022) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

Accogli A, Wiegand G, Scala M, Cerminara C, Iacomino M, Riva A, Carlini B, Camerota L, Belcastro V, Prontera P, Fernández-Jaén A, Bebek N, Scudieri P, Baldassari S, Salpietro V, Novelli G, De Luca C, von Stülpnagel C, Kluger F, Kluger GJ, Wohlrab GC, Ramantani G, et al.

Neurology. 2021 Aug 10;97(6):e577-e586. doi: 10.1212/WNL.0000000000012298. Epub 2021 Jun 2.

PubMed [citation]
PMID:
34078716
PMCID:
PMC8424500

Details of each submission

From OMIM, SCV002583589.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 brothers (family 5) with X-linked epilepsy and variable learning disabilities and behavior disorders (EPILX1; 300491), Accogli et al. (2021) identified a hemizygous 1-bp duplication (c.1406dupA, NM_006950.3) in the SYN1 gene, resulting in a frameshift and premature termination (Pro470AlafsTer214). The mutation, which was found by whole-exome sequencing, was inherited from the mother. Their sister was also similarly affected, which may have been due to skewed X-inactivation. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Aug 5, 2023