NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) 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:: RCV002395836.2

Allele description [Variation Report for NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)]

NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)

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.142C>T (p.Leu48Phe)

HGVS:

NC_000021.9:g.34449493G>A
NG_009091.1:g.66823C>T
NM_000219.6:c.142C>TMANE SELECT
NM_001127668.4:c.142C>T
NM_001127669.4:c.142C>T
NM_001127670.4:c.142C>T
NM_001270402.3:c.142C>T
NM_001270403.2:c.142C>T
NM_001270404.3:c.142C>T
NM_001270405.3:c.142C>T
NP_000210.2:p.Leu48Phe
NP_001121140.1:p.Leu48Phe
NP_001121141.1:p.Leu48Phe
NP_001121142.1:p.Leu48Phe
NP_001257331.1:p.Leu48Phe
NP_001257332.1:p.Leu48Phe
NP_001257333.1:p.Leu48Phe
NP_001257334.1:p.Leu48Phe
LRG_290t1:c.142C>T
LRG_290:g.66823C>T
NC_000021.8:g.35821791G>A
NM_000219.3:c.142C>T

Protein change:

L48F

Links:

dbSNP: rs75610894

NCBI 1000 Genomes Browser:

rs75610894

Molecular consequence:

NM_000219.6:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127668.4:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127669.4:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127670.4:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001270402.3:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001270403.2:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001270404.3:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001270405.3:c.142C>T - 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
SCV002698715	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 17, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002698715

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 17, 2023)

germline

clinical testing

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

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

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Raju H, Ware JS, Skinner JR, Hedley PL, Arno G, Love DR, van der Werf C, Tfelt-Hansen J, Winkel BG, Cohen MC, Li X, John S, Sharma S, Jeffery S, Wilde AAM, Christiansen M, Sheppard MN, Behr ER.

BMC Cardiovasc Disord. 2019 Jul 23;19(1):174. doi: 10.1186/s12872-019-1154-8.

PubMed [citation]

PMID:: 31337358
PMCID:: PMC6651896

Details of each submission

From Ambry Genetics, SCV002698715.2

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

Description

The p.L48F variant (also known as c.142C>T), located in coding exon 1 of the KCNE1 gene, results from a C to T substitution at nucleotide position 142. The leucine at codon 48 is replaced by phenylalanine, an amino acid with highly similar properties. This variant has been detected in an individual from a sudden death cohort; however, details were limited (Raju H et al. BMC Cardiovasc Disord, 2019 Jul;19:174). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: May 7, 2024

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