NM_000335.5(SCN5A):c.1813G>A (p.Gly605Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 6, 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:: RCV000781837.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.1813G>A (p.Gly605Arg)]

NM_000335.5(SCN5A):c.1813G>A (p.Gly605Arg)

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.1813G>A (p.Gly605Arg)

HGVS:

NC_000003.12:g.38603789C>T
NG_008934.1:g.50884G>A
NM_000335.5:c.1813G>AMANE SELECT
NM_001099404.2:c.1813G>A
NM_001099405.2:c.1813G>A
NM_001160160.2:c.1813G>A
NM_001160161.2:c.1813G>A
NM_001354701.2:c.1813G>A
NM_198056.3:c.1813G>A
NP_000326.2:p.Gly605Arg
NP_001092874.1:p.Gly605Arg
NP_001092875.1:p.Gly605Arg
NP_001153632.1:p.Gly605Arg
NP_001153633.1:p.Gly605Arg
NP_001341630.1:p.Gly605Arg
NP_932173.1:p.Gly605Arg
NP_932173.1:p.Gly605Arg
LRG_289t1:c.1813G>A
LRG_289:g.50884G>A
LRG_289p1:p.Gly605Arg
NC_000003.11:g.38645280C>T
NM_198056.2:c.1813G>A

Protein change:

G605R

Links:

dbSNP: rs1553704001

NCBI 1000 Genomes Browser:

rs1553704001

Molecular consequence:

NM_000335.5:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001099404.2:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001099405.2:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001160160.2:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001160161.2:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354701.2:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198056.3:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000920187	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 6, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000920187

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 6, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000920187.1

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

Description

Variant summary: The c.1813G>A (p.Gly605Arg) in SCN5A gene is a missense variant involves a mildly conserved nucleotide and 4/4 in silico tools predict damaging outcome, however no functional studies supporting these predictions were published at the time of evaluation. The variant is located within the cytoplasmic domain of voltage-gated Na+ ion channel. The c.1813G>A is absent from the control population datasets of ExAC and gnomAD (111634 and 223734 chrs tested, respectively). To our knowledge, the variant has not been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. Taken together, the variant was classified as VUS, until new information becomes available.

#	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: Sep 1, 2024

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