NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 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:: RCV000250531.6

Allele description [Variation Report for NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)]

NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)

Gene:

KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

Preferred name:

NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)

HGVS:

NC_000021.9:g.34449388C>T
NG_009091.1:g.66928G>A
NM_000219.6:c.247G>AMANE SELECT
NM_001127668.4:c.247G>A
NM_001127669.4:c.247G>A
NM_001127670.4:c.247G>A
NM_001270402.3:c.247G>A
NM_001270403.2:c.247G>A
NM_001270404.3:c.247G>A
NM_001270405.3:c.247G>A
NP_000210.2:p.Glu83Lys
NP_001121140.1:p.Glu83Lys
NP_001121141.1:p.Glu83Lys
NP_001121142.1:p.Glu83Lys
NP_001257331.1:p.Glu83Lys
NP_001257332.1:p.Glu83Lys
NP_001257333.1:p.Glu83Lys
NP_001257334.1:p.Glu83Lys
LRG_290t1:c.247G>A
LRG_290:g.66928G>A
NC_000021.8:g.35821686C>T
NM_000219.3:c.247G>A
P15382:p.Glu83Lys

Protein change:

E83K

Links:

UniProtKB: P15382#VAR_074919; dbSNP: rs199473360

NCBI 1000 Genomes Browser:

rs199473360

Molecular consequence:

NM_000219.6:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127668.4:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127669.4:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127670.4:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270402.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270403.2:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270404.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270405.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000318985	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 17, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19716085, 26159999 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000318985

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 17, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]

PMID:: 19716085
PMCID:: PMC3049907

Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.

Ghouse J, Have CT, Weeke P, Bille Nielsen J, Ahlberg G, Balslev-Harder M, Appel EV, Skaaby T, Olesen SP, Grarup N, Linneberg A, Pedersen O, Haunsø S, Hastrup Svendsen J, Hansen T, Kanters JK, Salling Olesen M.

Eur Heart J. 2015 Oct 1;36(37):2523-9. doi: 10.1093/eurheartj/ehv297. Epub 2015 Jul 9.

PubMed [citation]

PMID:: 26159999

Details of each submission

From Ambry Genetics, SCV000318985.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.E83K variant (also known as c.247G>A) is located in coding exon 1 of the KCNE1 gene. This alteration results from a G to A substitution at nucleotide position 247. The glutamic acid at codon 83 is replaced by lysine, an amino acid with similar properties. In a study of long QT syndrome clinical genetic testing, this alteration was reported in one patient; however, clinical details were limited (Kapplinger JD et al. Heart Rhythm, 2009 Sep;6:1297-303). This alteration was also reported in an individual from a healthy exome cohort with a normal QTc interval, but additional clinical information was not available (Ghouse J et al. Eur. Heart J., 2015 Oct;36:2523-9). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Jul 23, 2024

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