NM_001330260.2(SCN8A):c.736C>T (p.Gln246Ter) AND Neurodevelopmental disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 12, 2022
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:: RCV002277641.1

Allele description [Variation Report for NM_001330260.2(SCN8A):c.736C>T (p.Gln246Ter)]

NM_001330260.2(SCN8A):c.736C>T (p.Gln246Ter)

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.736C>T (p.Gln246Ter)

HGVS:

NC_000012.12:g.51699599C>T
NG_021180.3:g.114642C>T
NM_001177984.3:c.736C>T
NM_001330260.2:c.736C>TMANE SELECT
NM_001369788.1:c.736C>T
NM_014191.4:c.736C>T
NP_001171455.1:p.Gln246Ter
NP_001317189.1:p.Gln246Ter
NP_001356717.1:p.Gln246Ter
NP_055006.1:p.Gln246Ter
LRG_1389t1:c.736C>T
LRG_1389t2:c.736C>T
LRG_1389:g.114642C>T
LRG_1389p1:p.Gln246Ter
LRG_1389p2:p.Gln246Ter
NC_000012.11:g.52093383C>T

Protein change:

Q246*

Links:

dbSNP: rs1555218610

NCBI 1000 Genomes Browser:

rs1555218610

Molecular consequence:

NM_001177984.3:c.736C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330260.2:c.736C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001369788.1:c.736C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_014191.4:c.736C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Neurodevelopmental disorder
Identifiers:: MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002564445	Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 12, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002564445

Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 12, 2022)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV002564445.1

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

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

Last Updated: Dec 24, 2023

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