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NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) AND Cardiac arrhythmia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 20, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001841636.11

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)]

NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)

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_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)
Other names:
p.I567T:ATT>ACT
HGVS:
  • NC_000011.10:g.2777000T>C
  • NG_008935.1:g.337010T>C
  • NM_000218.3:c.1700T>CMANE SELECT
  • NM_001406836.1:c.1604T>C
  • NM_001406837.1:c.1430T>C
  • NM_001406838.1:c.1160T>C
  • NM_181798.2:c.1319T>C
  • NP_000209.2:p.Ile567Thr
  • NP_000209.2:p.Ile567Thr
  • NP_001393765.1:p.Ile535Thr
  • NP_001393766.1:p.Ile477Thr
  • NP_001393767.1:p.Ile387Thr
  • NP_861463.1:p.Ile440Thr
  • NP_861463.1:p.Ile440Thr
  • LRG_287t1:c.1700T>C
  • LRG_287t2:c.1319T>C
  • LRG_287:g.337010T>C
  • LRG_287p1:p.Ile567Thr
  • LRG_287p2:p.Ile440Thr
  • NC_000011.9:g.2798230T>C
  • NM_000218.2:c.1700T>C
  • NM_181798.1:c.1319T>C
  • NR_040711.2:n.1593T>C
  • P51787:p.Ile567Thr
Protein change:
I387T
Links:
UniProtKB: P51787#VAR_075023; dbSNP: rs199472805
NCBI 1000 Genomes Browser:
rs199472805
Molecular consequence:
  • NM_000218.3:c.1700T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406838.1:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.1319T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiac arrhythmia
Synonyms:
Cardiac rhythm disease
Identifiers:
EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001352302Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 20, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001352302.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This missense variant replaces isoleucine with threonine at codon 567 in the cytoplasmic C-terminal region of the KCNQ1 protein. Computational prediction tool suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold ≥0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in individuals affected with long QT syndrome (PMID: 16414944, 22429796, 23130128, 29925740, 31424047) and in an individual referred for long QT syndrome genetic testing (PMID: 19716085). This variant has been reported in the homozygous state in individuals affected with Jervell and Lange-Nielsen syndrome (PMID: 24372464). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.

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

Last Updated: May 16, 2025