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NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp) AND Cardiac arrhythmia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 27, 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:
RCV001841691.11

Allele description [Variation Report for NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp)]

NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp)

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.875G>A (p.Gly292Asp)
Other names:
p.G292D:GGC>GAC
HGVS:
  • NC_000011.10:g.2572940G>A
  • NG_008935.1:g.132950G>A
  • NM_000218.3:c.875G>AMANE SELECT
  • NM_001406836.1:c.875G>A
  • NM_001406837.1:c.605G>A
  • NM_181798.2:c.494G>A
  • NP_000209.2:p.Gly292Asp
  • NP_000209.2:p.Gly292Asp
  • NP_001393765.1:p.Gly292Asp
  • NP_001393766.1:p.Gly202Asp
  • NP_861463.1:p.Gly165Asp
  • NP_861463.1:p.Gly165Asp
  • LRG_287t1:c.875G>A
  • LRG_287t2:c.494G>A
  • LRG_287:g.132950G>A
  • LRG_287p1:p.Gly292Asp
  • LRG_287p2:p.Gly165Asp
  • NC_000011.9:g.2594170G>A
  • NM_000218.2:c.875G>A
  • NM_181798.1:c.494G>A
  • NR_040711.2:n.768G>A
  • P51787:p.Gly292Asp
Protein change:
G165D
Links:
UniProtKB: P51787#VAR_068301; dbSNP: rs199472736
NCBI 1000 Genomes Browser:
rs199472736
Molecular consequence:
  • NM_000218.3:c.875G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.875G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.494G>A - 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
SCV001734336Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 27, 2023) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.

Van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AA.

J Med Genet. 2003 Feb;40(2):141-5. No abstract available.

PubMed [citation]
PMID:
12566525
PMCID:
PMC1735373

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Heart Rhythm. 2005 May;2(5):507-17.

PubMed [citation]
PMID:
15840476
See all PubMed Citations (8)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001734336.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This missense variant replaces glycine with aspartic acid at codon 292 of the KCNQ1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in several individuals affected with or suspected of having long QT syndrome (PMID: 12566525, 15840476, 17470695, 19716085, 28532774), one of which had coexisting congenital heart disease (PMID: 28532774). This variant has also been reported in an individual affected with atrial fibrillation (PMID: 27325960) and in an individual affected with sudden unexpected death with right ventricle fibrosis (PMID: 26383259). This variant has been identified in 12/281670 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 13, 2024