NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489920.3

Allele description [Variation Report for NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala)]

NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala)
HGVS:
  • NC_000011.10:g.2527971A>G
  • NG_008935.1:g.87981A>G
  • NM_000218.2:c.430A>G
  • NM_181798.1:c.49A>G
  • NP_000209.2:p.Thr144Ala
  • NP_861463.1:p.Thr17Ala
  • LRG_287t1:c.430A>G
  • LRG_287t2:c.49A>G
  • LRG_287:g.87981A>G
  • LRG_287p1:p.Thr144Ala
  • LRG_287p2:p.Thr17Ala
  • NC_000011.9:g.2549201A>G
  • P51787:p.Thr144Ala
Protein change:
T144A
Links:
UniProtKB: P51787#VAR_074936; dbSNP: rs199473451
NCBI 1000 Genomes Browser:
rs199473451
Molecular consequence:
  • NM_000218.2:c.430A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.49A>G - 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
SCV000576622GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 19, 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, SCV000576622.4

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

Description

Reported independently and in conjunction with the R594P variant in the KCNQ1 gene in multiple unrelated individuals with LQTS (Zareba et al., 2003; Miller et al., 2007; Moss et al., 2007; Kapplinger et al., 2009); Reported in ClinVar (ClinVar Variant ID# 67073; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Functional studies demonstrated the T144A variant resulted in decreased potassium currents with slowed activation, accelerated deactivation kinetics, and a depolarizing shift in the voltage dependence of activation when expressed in homologous potassium channel genes (KCNQ2/3); however, direct analysis of the effect of the T144A variant on the KCNQ1 protein was not performed (Full et al., 213); 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: 26734131, 21152909, 14678125, 19716085, 17470695, 23271449, 17224687, 22581653, 30571187)

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

Last Updated: Oct 8, 2021

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