NM_000335.5(SCN5A):c.1333C>G (p.His445Asp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 26, 2020)

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.1333C>G (p.His445Asp)]

NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)

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.1333C>G (p.His445Asp)
  • NC_000003.12:g.38605956G>C
  • NG_008934.1:g.48717C>G
  • NM_000335.5:c.1333C>GMANE SELECT
  • NM_001099404.2:c.1333C>G
  • NM_001099405.2:c.1333C>G
  • NM_001160160.2:c.1333C>G
  • NM_001160161.2:c.1333C>G
  • NM_001354701.2:c.1333C>G
  • NM_198056.2:c.1333C>G
  • NM_198056.3:c.1333C>G
  • NP_000326.2:p.His445Asp
  • NP_001092874.1:p.His445Asp
  • NP_001092875.1:p.His445Asp
  • NP_001153632.1:p.His445Asp
  • NP_001153633.1:p.His445Asp
  • NP_001341630.1:p.His445Asp
  • NP_932173.1:p.His445Asp
  • NP_932173.1:p.His445Asp
  • LRG_289t1:c.1333C>G
  • LRG_289:g.48717C>G
  • LRG_289p1:p.His445Asp
  • NC_000003.11:g.38647447G>C
  • Q14524:p.His445Asp
Protein change:
H445D; HIS445ASP
UniProtKB: Q14524#VAR_055173; OMIM: 600163.0042; dbSNP: rs199473112
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000335.5:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.1333C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.1333C>G - 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)
SCV000514537GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 26, 2020)
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, SCV000514537.3

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


Identified in patients with LQTS, atrial fibrillation, Brugada syndrome, or sudden infant death either tested at GeneDx or in the published literature (Darbar et al., 2008; Le Scouarnec et al., 2015; Campuzano et al., 2018); however, some individuals harbor additional variants that could explain their phenotype; Observed to segregate with atrial fibrillation in one proband's affected father and brother (Darbar et al., 2008); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 30046; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 19808477, 22581653, 25650408, 18378609, 28150151, 30086531, 28086167, 30193851)

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

Last Updated: Nov 20, 2021

Support Center