NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly) AND Brugada syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 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:: RCV001054084.12

Allele description [Variation Report for NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly)]

NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly)

Gene:

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly)

HGVS:

NC_000003.12:g.38630387T>C
NG_008934.1:g.24286A>G
NM_000335.5:c.316A>GMANE SELECT
NM_001099404.2:c.316A>G
NM_001099405.2:c.316A>G
NM_001160160.2:c.316A>G
NM_001160161.2:c.316A>G
NM_001354701.2:c.316A>G
NM_198056.3:c.316A>G
NP_000326.2:p.Ser106Gly
NP_001092874.1:p.Ser106Gly
NP_001092875.1:p.Ser106Gly
NP_001153632.1:p.Ser106Gly
NP_001153633.1:p.Ser106Gly
NP_001341630.1:p.Ser106Gly
NP_932173.1:p.Ser106Gly
NP_932173.1:p.Ser106Gly
LRG_289t1:c.316A>G
LRG_289:g.24286A>G
LRG_289p1:p.Ser106Gly
NC_000003.11:g.38671878T>C
NM_198056.2:c.316A>G

Protein change:

S106G

Links:

dbSNP: rs1331765859

NCBI 1000 Genomes Browser:

rs1331765859

Molecular consequence:

NM_000335.5:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099404.2:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099405.2:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160160.2:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160161.2:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354701.2:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198056.3:c.316A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Brugada syndrome
Synonyms:: Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001218379	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 18, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 29016939, 33213388, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001218379

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 18, 2022)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases.

Hellenthal N, Gaertner-Rommel A, Klauke B, Paluszkiewicz L, Stuhr M, Kerner T, Farr M, Püschel K, Milting H.

Europace. 2017 Nov 1;19(11):1881-1890. doi: 10.1093/europace/euw247.

PubMed [citation]

PMID:: 29016939

Characterization of an N-terminal Na(v)1.5 channel variant - a potential risk factor for arrhythmias and sudden death?

Scheiper-Welling S, Zuccolini P, Rauh O, Beckmann BM, Geisen C, Moroni A, Thiel G, Kauferstein S.

BMC Med Genet. 2020 Nov 19;21(1):227. doi: 10.1186/s12881-020-01170-3.

PubMed [citation]

PMID:: 33213388
PMCID:: PMC7678220

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001218379.3

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

Description

This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 106 of the SCN5A protein (p.Ser106Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SCN5A-related conditions (PMID: 29016939, 33213388). ClinVar contains an entry for this variant (Variation ID: 850004). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). Experimental studies have shown that this missense change affects SCN5A function (PMID: 33213388). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Oct 13, 2024

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