NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) AND not specified

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Dec 15, 2016
Review status:: criteria provided, conflicting classifications

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:: RCV000171049.24

Allele description [Variation Report for NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)]

NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)

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.28G>A (p.Gly10Ser)

Other names:

p.G10S:GGC>AGC

HGVS:

NC_000019.10:g.35030848G>A
NG_013359.1:g.5161G>A
NM_001037.5:c.28G>AMANE SELECT
NM_199037.5:c.28G>A
NP_001028.1:p.Gly10Ser
NP_950238.1:p.Gly10Ser
LRG_420t1:c.28G>A
LRG_420:g.5161G>A
LRG_420p1:p.Gly10Ser
NC_000019.9:g.35521752G>A
NM_001037.4:c.28G>A
NM_199037.3:c.28G>A

Protein change:

G10S

Links:

dbSNP: rs72552027

NCBI 1000 Genomes Browser:

rs72552027

Molecular consequence:

NM_001037.5:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_199037.5:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000340537	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Apr 13, 2016)	germline	clinical testing	Citation Link,
SCV000615049	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Dec 15, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20226894, 24662403, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000340537

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Apr 13, 2016)

germline

clinical testing

Citation Link,

SCV000615049

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Dec 15, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.

Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A, Makielski JC, Ackerman MJ.

Heart Rhythm. 2010 Jun;7(6):771-8. doi: 10.1016/j.hrthm.2010.01.032. Epub 2010 Feb 1.

PubMed [citation]

PMID:: 20226894
PMCID:: PMC2909680

A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome.

Riuró H, Campuzano O, Arbelo E, Iglesias A, Batlle M, Pérez-Villa F, Brugada J, Pérez GJ, Scornik FS, Brugada R.

Heart Rhythm. 2014 Jul;11(7):1202-9. doi: 10.1016/j.hrthm.2014.03.044. Epub 2014 Mar 21.

PubMed [citation]

PMID:: 24662403

See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000340537.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From Athena Diagnostics, SCV000615049.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Apr 13, 2025

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