NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 22, 2024
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:: RCV001548137.16

Allele description [Variation Report for NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)]

NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)

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.3107G>A (p.Gly1036Asp)

HGVS:

NC_000007.14:g.150947373C>T
NG_008916.1:g.35554G>A
NM_000238.4:c.3107G>AMANE SELECT
NM_172057.3:c.2087G>A
NP_000229.1:p.Gly1036Asp
NP_000229.1:p.Gly1036Asp
NP_742054.1:p.Gly696Asp
LRG_288t1:c.3107G>A
LRG_288:g.35554G>A
LRG_288p1:p.Gly1036Asp
NC_000007.13:g.150644461C>T
NM_000238.2:c.3107G>A
NM_000238.3:c.3107G>A
Q12809:p.Gly1036Asp

Protein change:

G1036D

Links:

UniProtKB: Q12809#VAR_068286; dbSNP: rs199473022

NCBI 1000 Genomes Browser:

rs199473022

Molecular consequence:

NM_000238.4:c.3107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.2087G>A - 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
SCV001767994	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 22, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001767994

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 22, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001767994.3

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

Description

Reported in patients with LQTS or referred for LQTS genetic testing; at least one patient with LQTS harbored additional cardiogenetic variants (PMID: 15840476, 18675227, 19841300, 19804510, 22949429, 26066609); In vitro functional analysis using Chinese hamster ovary cells demonstrated decreased potassium channel current in the presence of p.(G1036D), though it is not clear how well these studies reproduce in vivo conditions (PMID: 18675227); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26633542, 19804510, 22581653, 26147798, 25417810, 26066609, 19841300, 22949429, 18675227, 26669661, 23174487, 31618753, 29622001, 15840476)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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