NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His) AND Cognitive impairment with or without cerebellar ataxia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 4, 2019
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:: RCV000995865.5

Allele description [Variation Report for NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His)]

NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His)

Gene:

SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His)

HGVS:

NC_000012.12:g.51765672T>A
NG_021180.3:g.180715T>A
NM_001177984.3:c.2546T>A
NM_001330260.2:c.2546T>AMANE SELECT
NM_001369788.1:c.2546T>A
NM_014191.4:c.2546T>A
NP_001171455.1:p.Leu849His
NP_001317189.1:p.Leu849His
NP_001356717.1:p.Leu849His
NP_055006.1:p.Leu849His
LRG_1389t1:c.2546T>A
LRG_1389t2:c.2546T>A
LRG_1389:g.180715T>A
LRG_1389p1:p.Leu849His
LRG_1389p2:p.Leu849His
NC_000012.11:g.52159456T>A

Protein change:

L849H

Links:

dbSNP: rs1592149711

NCBI 1000 Genomes Browser:

rs1592149711

Molecular consequence:

NM_001177984.3:c.2546T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330260.2:c.2546T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369788.1:c.2546T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014191.4:c.2546T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cognitive impairment with or without cerebellar ataxia (CIAT)
Identifiers:: MONDO: MONDO:0013680; MedGen: C3280415; OMIM: 614306

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001150248	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Likely pathogenic (Jun 4, 2019)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001150248

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Likely pathogenic
(Jun 4, 2019)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001150248.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Jun 23, 2024

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