NM_000238.4(KCNH2):c.2033T>G (p.Leu678Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 5, 2021
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:: RCV001811907.13

Allele description [Variation Report for NM_000238.4(KCNH2):c.2033T>G (p.Leu678Arg)]

NM_000238.4(KCNH2):c.2033T>G (p.Leu678Arg)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.4(KCNH2):c.2033T>G (p.Leu678Arg)

HGVS:

NC_000007.14:g.150951033A>C
NG_008916.1:g.31894T>G
NM_000238.4:c.2033T>GMANE SELECT
NM_001204798.2:c.1013T>G
NM_001406753.1:c.1745T>G
NM_001406755.1:c.1856T>G
NM_001406756.1:c.1745T>G
NM_001406757.1:c.1733T>G
NM_172056.3:c.2033T>G
NM_172057.3:c.1013T>G
NP_000229.1:p.Leu678Arg
NP_000229.1:p.Leu678Arg
NP_001191727.1:p.Leu338Arg
NP_001393682.1:p.Leu582Arg
NP_001393684.1:p.Leu619Arg
NP_001393685.1:p.Leu582Arg
NP_001393686.1:p.Leu578Arg
NP_742053.1:p.Leu678Arg
NP_742053.1:p.Leu678Arg
NP_742054.1:p.Leu338Arg
NP_742054.1:p.Leu338Arg
LRG_288t1:c.2033T>G
LRG_288t2:c.2033T>G
LRG_288t3:c.1013T>G
LRG_288:g.31894T>G
LRG_288p1:p.Leu678Arg
LRG_288p2:p.Leu678Arg
LRG_288p3:p.Leu338Arg
NC_000007.13:g.150648121A>C
NM_000238.3:c.2033T>G
NM_172056.2:c.2033T>G
NM_172057.2:c.1013T>G
NR_176254.1:n.2441T>G
NR_176255.1:n.1314T>G

Protein change:

L338R

Links:

dbSNP: rs199472981

NCBI 1000 Genomes Browser:

rs199472981

Molecular consequence:

NM_000238.4:c.2033T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204798.2:c.1013T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406753.1:c.1745T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406755.1:c.1856T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406756.1:c.1745T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406757.1:c.1733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172056.3:c.2033T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.1013T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002048700	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Uncertain significance (Oct 5, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002048700

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Uncertain significance
(Oct 5, 2021)

germline

clinical testing

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048700.1

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

Description

The KCNH2 c.2033T>G; p.Leu678Arg variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The leucine at codon 678 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.85). However, given the lack of clinical and functional data, the significance of the p.Leu678Arg variant is uncertain at this time.

#	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 16, 2024

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