NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Jun 23, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001090977.4

Allele description [Variation Report for NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)]

NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)

Gene:
KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)
HGVS:
  • NC_000021.9:g.34449343G>A
  • NG_009091.1:g.66973C>T
  • NM_000219.6:c.292C>TMANE SELECT
  • NM_001127668.3:c.292C>T
  • NM_001127669.4:c.292C>T
  • NM_001127670.3:c.292C>T
  • NM_001270402.2:c.292C>T
  • NM_001270403.2:c.292C>T
  • NM_001270404.2:c.292C>T
  • NM_001270405.2:c.292C>T
  • NP_000210.2:p.Arg98Trp
  • NP_001121140.1:p.Arg98Trp
  • NP_001121141.1:p.Arg98Trp
  • NP_001121142.1:p.Arg98Trp
  • NP_001257331.1:p.Arg98Trp
  • NP_001257332.1:p.Arg98Trp
  • NP_001257333.1:p.Arg98Trp
  • NP_001257334.1:p.Arg98Trp
  • LRG_290t1:c.292C>T
  • LRG_290:g.66973C>T
  • NC_000021.8:g.35821641G>A
  • NM_000219.3:c.292C>T
  • NM_000219.5:c.292C>T
  • P15382:p.Arg98Trp
Protein change:
R98W
Links:
UniProtKB: P15382#VAR_009907; dbSNP: rs199473362
NCBI 1000 Genomes Browser:
rs199473362
Molecular consequence:
  • NM_000219.6:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127668.3:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127669.4:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127670.3:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270402.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270403.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270404.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270405.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
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)
OriginMethodCitations
SCV001246781CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Mar 1, 2017)
germlineclinical testing

Citation Link,

SCV001790098GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 23, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001246781.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001790098.1

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

Description

Reported in ClinVar with conflicting interpretations of pathogenicity (ClinVar Variant ID# 132676; Landrum et al., 2016); In vitro functional studies show a reduction in potassium channel current and abnormal KCNQ1 protein trafficking (Ohno et al., 2006; Harmer et al., 2010); however additional studies are needed to validate the functional effect of this variant in vivo; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 30123799, 29766885, 29261713, 29672598, 30530868, 30461122, 31447099, 32058015, 31941373, 17341399, 16684966, 24606995, 19862833, 16945797, 16922724, 10973849, 21070882, 23861362, 24710009, 19907016)

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

Last Updated: Oct 6, 2021

Support Center