NM_000219.6(KCNE1):c.388T>C (p.Ter130Arg) AND Long QT syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 4, 2022
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:: RCV001975778.4

Allele description [Variation Report for NM_000219.6(KCNE1):c.388T>C (p.Ter130Arg)]

NM_000219.6(KCNE1):c.388T>C (p.Ter130Arg)

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.388T>C (p.Ter130Arg)

HGVS:

NC_000021.9:g.34449247A>G
NG_009091.1:g.67069T>C
NM_000219.6:c.388T>CMANE SELECT
NM_001127668.4:c.388T>C
NM_001127669.4:c.388T>C
NM_001127670.4:c.388T>C
NM_001270402.3:c.388T>C
NM_001270403.2:c.388T>C
NM_001270404.3:c.388T>C
NM_001270405.3:c.388T>C
NP_000210.2:p.Ter130Arg
NP_001121140.1:p.Ter130Arg
NP_001121141.1:p.Ter130Arg
NP_001121142.1:p.Ter130Arg
NP_001257331.1:p.Ter130Arg
NP_001257332.1:p.Ter130Arg
NP_001257333.1:p.Ter130Arg
NP_001257334.1:p.Ter130Arg
LRG_290:g.67069T>C
NC_000021.8:g.35821545A>G

Links:

dbSNP: rs2123456481

NCBI 1000 Genomes Browser:

rs2123456481

Molecular consequence:

NM_000219.6:c.388T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001127668.4:c.388T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001127669.4:c.388T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001127670.4:c.388T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001270402.3:c.388T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001270403.2:c.388T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001270404.3:c.388T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001270405.3:c.388T>C - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:: Long QT syndrome (LQTS)
Identifiers:: MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

Recent activity

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myelin-oligodendrocyte glycoprotein isoform alpha2 precursor [Homo sapiens]
myelin-oligodendrocyte glycoprotein isoform alpha2 precursor [Homo sapiens]
gi|56788383|ref|NP_996535.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002252688	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 4, 2022)	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

SCV002252688

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 4, 2022)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002252688.3

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

Description

This sequence change disrupts the translational stop signal of the KCNE1 mRNA. It is expected to extend the length of the KCNE1 protein by 18 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNE1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

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