NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) AND KCNQ1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 11, 2023
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:: RCV004537258.1

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)]

NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)

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.1556G>A (p.Arg519His)

HGVS:

NC_000011.10:g.2768885G>A
NG_008935.1:g.328895G>A
NM_000218.3:c.1556G>AMANE SELECT
NM_001406836.1:c.1460G>A
NM_001406837.1:c.1286G>A
NM_001406838.1:c.1016G>A
NM_181798.2:c.1175G>A
NP_000209.2:p.Arg519His
NP_000209.2:p.Arg519His
NP_001393765.1:p.Arg487His
NP_001393766.1:p.Arg429His
NP_001393767.1:p.Arg339His
NP_861463.1:p.Arg392His
NP_861463.1:p.Arg392His
LRG_287t1:c.1556G>A
LRG_287t2:c.1175G>A
LRG_287:g.328895G>A
LRG_287p1:p.Arg519His
LRG_287p2:p.Arg392His
NC_000011.9:g.2790115G>A
NM_000218.2:c.1556G>A
NM_181798.1:c.1175G>A
NR_040711.2:n.1449G>A

Protein change:

R339H

Links:

dbSNP: rs199472788

NCBI 1000 Genomes Browser:

rs199472788

Molecular consequence:

NM_000218.3:c.1556G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406836.1:c.1460G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406837.1:c.1286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406838.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181798.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: KCNQ1-related disorder
Synonyms:: KCNQ1-Related Disorders; KCNQ1-related condition
Identifiers:: MedGen: CN239322

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004120898	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004120898

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 11, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 PreventionGenetics, part of Exact Sciences, SCV004120898.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The KCNQ1 c.1556G>A variant is predicted to result in the amino acid substitution p.Arg519His. This variant was reported in an individual with long QT syndrome (Itoh et al 2015. PubMed ID: 26118460). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-2790115-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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