NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jul 28, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000183008.3

Allele description [Variation Report for NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys)]

NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys)

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.2632C>T (p.Arg878Cys)
Other names:
p.R878C:CGC>TGC
HGVS:
  • NC_000003.12:g.38585846G>A
  • NG_008934.1:g.68827C>T
  • NM_000335.5:c.2632C>TMANE SELECT
  • NM_001099404.2:c.2632C>T
  • NM_001099405.2:c.2632C>T
  • NM_001160160.2:c.2632C>T
  • NM_001160161.2:c.2632C>T
  • NM_001354701.2:c.2632C>T
  • NM_198056.3:c.2632C>T
  • NP_000326.2:p.Arg878Cys
  • NP_001092874.1:p.Arg878Cys
  • NP_001092875.1:p.Arg878Cys
  • NP_001153632.1:p.Arg878Cys
  • NP_001153633.1:p.Arg878Cys
  • NP_001341630.1:p.Arg878Cys
  • NP_932173.1:p.Arg878Cys
  • NP_932173.1:p.Arg878Cys
  • LRG_289t1:c.2632C>T
  • LRG_289:g.68827C>T
  • LRG_289p1:p.Arg878Cys
  • NC_000003.11:g.38627337G>A
  • NM_198056.2:c.2632C>T
  • Q14524:p.Arg878Cys
Protein change:
R878C
Links:
UniProtKB: Q14524#VAR_055183; dbSNP: rs199473168
NCBI 1000 Genomes Browser:
rs199473168
Molecular consequence:
  • NM_000335.5:c.2632C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.2632C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.2632C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.2632C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.2632C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.2632C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.2632C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000235414GeneDxcriteria provided, single submitter
Likely pathogenic
(Jul 28, 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, SCV000235414.12

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

Description

Reported to segregate with varying arrhythmia phenotypes in four individuals from one family (Zhang et al., 2008); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 67744; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 22840528, 28449774, 18616619, 20539757, 27381756, 20960617, 24136861, 17368591, 25399282, 26036855, 30476647, 29233994, 30232268, 22739120, 28781330, 28341781, 20129283, 24055942, 30662450, 33131149)

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

Last Updated: Dec 4, 2021

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