NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 28, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys)]

NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys)

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys)
  • NC_000003.12:g.38598978C>T
  • NG_008934.1:g.55695G>A
  • NM_000335.5:c.1963G>AMANE SELECT
  • NM_001099404.2:c.1963G>A
  • NM_001099405.2:c.1963G>A
  • NM_001160160.2:c.1963G>A
  • NM_001160161.2:c.1963G>A
  • NM_001354701.2:c.1963G>A
  • NM_198056.2:c.1963G>A
  • NM_198056.3:c.1963G>A
  • NP_000326.2:p.Glu655Lys
  • NP_001092874.1:p.Glu655Lys
  • NP_001092875.1:p.Glu655Lys
  • NP_001153632.1:p.Glu655Lys
  • NP_001153633.1:p.Glu655Lys
  • NP_001341630.1:p.Glu655Lys
  • NP_932173.1:p.Glu655Lys
  • NP_932173.1:p.Glu655Lys
  • LRG_289t1:c.1963G>A
  • LRG_289:g.55695G>A
  • LRG_289p1:p.Glu655Lys
  • NC_000003.11:g.38640469C>T
  • Q14524:p.Glu655Lys
Protein change:
E655K; GLU655LYS
UniProtKB: Q14524#VAR_055180; OMIM: 600163.0045; dbSNP: rs199473579
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000335.5:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000565532GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 28, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000565532.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


Segregates with disease in affected individuals with atrial fibrillation in a single family in the published literature (Darbar et al., 2008); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 30049; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 25175087, 18378609)

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

Support Center