NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 1, 2017
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:: RCV000498527.1

Allele description [Variation Report for NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter)]

NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter)

Gene:

SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

Preferred name:

NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter)

HGVS:

NC_000019.10:g.35033687C>G
NG_013359.1:g.8000C>G
NM_001037.5:c.396C>GMANE SELECT
NM_001321605.2:c.297C>G
NM_199037.5:c.396C>G
NP_001028.1:p.Tyr132Ter
NP_001308534.1:p.Tyr99Ter
NP_950238.1:p.Tyr132Ter
LRG_420t1:c.396C>G
LRG_420:g.8000C>G
LRG_420p1:p.Tyr132Ter
NC_000019.9:g.35524591C>G
NM_001037.4:c.396C>G

Protein change:

Y132*

Links:

dbSNP: rs181115510

Molecular consequence:

NM_001037.5:c.396C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001321605.2:c.297C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_199037.5:c.396C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000590134	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jun 1, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000590134

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jun 1, 2017)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000590134.3

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

Description

A variant of uncertain significance has been identified in the SCN1B gene. The Y132X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Y132X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y132X nonsense variant in the SCN1B gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, loss of function variants in the SCN1B gene have not been reported in Human Gene Mutation Database in association with disease (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	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: Apr 12, 2026

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