NM_181798.1(KCNQ1):c.40G>A (p.Val14Met) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000494365.3

Allele description [Variation Report for NM_181798.1(KCNQ1):c.40G>A (p.Val14Met)]

NM_181798.1(KCNQ1):c.40G>A (p.Val14Met)

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.40G>A (p.Val14Met)
HGVS:
  • NC_000011.10:g.2527962G>A
  • NG_008935.1:g.87972G>A
  • NM_000218.2:c.421G>A
  • NM_181798.1:c.40G>A
  • NP_000209.2:p.Val141Met
  • NP_861463.1:p.Val14Met
  • LRG_287t1:c.421G>A
  • LRG_287t2:c.40G>A
  • LRG_287:g.87972G>A
  • LRG_287p1:p.Val141Met
  • LRG_287p2:p.Val14Met
  • NC_000011.9:g.2549192G>A
Protein change:
V141M; VAL141MET
Links:
OMIM: 607542.0045; dbSNP: rs199472687
NCBI 1000 Genomes Browser:
rs199472687
Molecular consequence:
  • NM_000218.2:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.40G>A - 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
SCV000582623GeneDxcriteria provided, single submitter
Pathogenic
(Jan 17, 2020)
germlineclinical testing

Citation Link,

SCV001979196Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001979332Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582623.3

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

Description

Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 67072; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Published functional studies demonstrate a damaging effect as this variant results in a slowed deactivation of the potassium channel which is consistent with the disease mechanism for SQTS (Hong et al., 2005; Restier et al., 2008; Chan et al., 2012); This variant is associated with the following publications: (PMID: 24721657, 19862833, 28383569, 29697308, 24818999, 24006450, 18599533, 23375927, 16109388, 17999538, 20126594, 22529812, 26279191, 22250012, 21682648, 20667544, 26346102, 28491547, 28814790, 22581653, 25974115, 29213224, 31965297)

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001979196.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001979332.1

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

Last Updated: Oct 16, 2021

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