U.S. flag

An official website of the United States government

NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 24, 2023
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:
RCV003589352.2

Allele description [Variation Report for NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter)]

NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter)

Gene:
SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter)
HGVS:
  • NC_000009.12:g.128617707A>T
  • NG_027748.1:g.70150A>T
  • NG_027748.2:g.70122A>T
  • NM_001130438.3:c.5425A>TMANE SELECT
  • NM_001195532.2:c.5350A>T
  • NM_001363759.2:c.5425A>T
  • NM_001363765.2:c.5365A>T
  • NM_001375310.1:c.5425A>T
  • NM_001375311.2:c.5425A>T
  • NM_001375312.2:c.5461A>T
  • NM_001375313.1:c.5425A>T
  • NM_001375314.2:c.5365A>T
  • NM_001375318.1:c.5461A>T
  • NM_003127.4:c.5410A>T
  • NP_001123910.1:p.Lys1809Ter
  • NP_001182461.1:p.Lys1784Ter
  • NP_001350688.1:p.Lys1809Ter
  • NP_001350694.1:p.Lys1789Ter
  • NP_001362239.1:p.Lys1809Ter
  • NP_001362240.1:p.Lys1809Ter
  • NP_001362241.2:p.Lys1821Ter
  • NP_001362242.1:p.Lys1809Ter
  • NP_001362243.1:p.Lys1789Ter
  • NP_001362247.1:p.Lys1821Ter
  • NP_003118.2:p.Lys1804Ter
  • NC_000009.11:g.131379986A>T
Protein change:
K1784*
Molecular consequence:
  • NM_001130438.3:c.5425A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195532.2:c.5350A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363759.2:c.5425A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363765.2:c.5365A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375310.1:c.5425A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375311.2:c.5425A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375312.2:c.5461A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375313.1:c.5425A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375314.2:c.5365A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375318.1:c.5461A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003127.4:c.5410A>T - nonsense - [Sequence Ontology: SO:0001587]

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

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
SCV004308865Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 24, 2023) 		germlineclinical testing

PubMed (3)
[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

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, Zulaica M, López de Munain A, Asselbergh B, De Jonghe P, Baets J.

Brain. 2019 Sep 1;142(9):2605-2616. doi: 10.1093/brain/awz216.

PubMed [citation]
PMID:
31332438

De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.

Ylikallio E, Ritari N, Sainio M, Toppila J, Kivirikko S, Tyynismaa H, Auranen M, Isohanni P.

Brain. 2020 Dec 1;143(12):e104. doi: 10.1093/brain/awaa344. No abstract available.

PubMed [citation]
PMID:
33206935
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004308865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1809*) in the SPTAN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPTAN1 are known to be pathogenic (PMID: 31332438, 33206935).

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

Last Updated: Sep 29, 2024