NM_006306.4(SMC1A):c.2477del (p.Asn826fs) AND Developmental and epileptic encephalopathy, 85, with or without midline brain defects

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001072128.3

Allele description [Variation Report for NM_006306.4(SMC1A):c.2477del (p.Asn826fs)]

NM_006306.4(SMC1A):c.2477del (p.Asn826fs)

Gene:
SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_006306.4(SMC1A):c.2477del (p.Asn826fs)
HGVS:
  • NC_000023.11:g.53399675del
  • NG_006988.2:g.27997del
  • NM_001281463.1:c.2411del
  • NM_006306.4:c.2477delMANE SELECT
  • NP_001268392.1:p.Asn804fs
  • NP_006297.2:p.Asn826fs
  • LRG_773t1:c.2411del
  • LRG_773:g.27997del
  • LRG_773p1:p.Asn804fs
  • NC_000023.10:g.53426597del
Protein change:
N804fs
Links:
OMIM: 300040.0012
Molecular consequence:
  • NM_001281463.1:c.2411del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006306.4:c.2477del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
Synonyms:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS
Identifiers:
MONDO: MONDO:0026771; MedGen: C5393312; OMIM: 301044

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001237471OMIMno assertion criteria providedPathogenic
(Dec 1, 2020)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, et al.

Epilepsia. 2017 Apr;58(4):565-575. doi: 10.1111/epi.13669. Epub 2017 Feb 6.

PubMed [citation]
PMID:
28166369

Details of each submission

From OMIM, SCV001237471.2

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

Description

In 2 sisters (patients 8 and 9) with developmental and epileptic encephalopathy-85 (DEE85; 301044), Symonds et al. (2017) identified a de novo heterozygous 1-bp deletion (c.2477delA, NM_006306) in the SMC1A gene, predicted to result in a frameshift and premature termination. Functional studies of the variant and studies of patient cells were not performed. One sister had normal brain imaging and was less severely affected; she had onset of seizures at about 28 months of age. The other sister showed semilobar holoprosencephaly on brain imaging. She had onset of seizures in the first month of life and died at age 11 months. These findings demonstrated phenotypic variability even within the same family.

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

Last Updated: Sep 29, 2021

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