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NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly) AND Long QT syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 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:
RCV003532196.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly)]

NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly)

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.2387T>G (p.Val796Gly)
HGVS:
  • NC_000007.14:g.150950179A>C
  • NG_008916.1:g.32748T>G
  • NM_000238.4:c.2387T>GMANE SELECT
  • NM_001204798.2:c.1367T>G
  • NM_001406753.1:c.2099T>G
  • NM_001406755.1:c.2210T>G
  • NM_001406756.1:c.2099T>G
  • NM_001406757.1:c.2087T>G
  • NM_172056.3:c.2387T>G
  • NM_172057.3:c.1367T>G
  • NP_000229.1:p.Val796Gly
  • NP_000229.1:p.Val796Gly
  • NP_001191727.1:p.Val456Gly
  • NP_001393682.1:p.Val700Gly
  • NP_001393684.1:p.Val737Gly
  • NP_001393685.1:p.Val700Gly
  • NP_001393686.1:p.Val696Gly
  • NP_742053.1:p.Val796Gly
  • NP_742053.1:p.Val796Gly
  • NP_742054.1:p.Val456Gly
  • NP_742054.1:p.Val456Gly
  • LRG_288t1:c.2387T>G
  • LRG_288t2:c.2387T>G
  • LRG_288t3:c.1367T>G
  • LRG_288:g.32748T>G
  • LRG_288p1:p.Val796Gly
  • LRG_288p2:p.Val796Gly
  • LRG_288p3:p.Val456Gly
  • NC_000007.13:g.150647267A>C
  • NM_000238.3:c.2387T>G
  • NM_172056.2:c.2387T>G
  • NM_172057.2:c.1367T>G
  • NR_176254.1:n.2795T>G
  • NR_176255.1:n.1668T>G
Protein change:
V456G
Links:
dbSNP: rs1554425163
NCBI 1000 Genomes Browser:
rs1554425163
Molecular consequence:
  • NM_000238.4:c.2387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.1367T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.2210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.2087T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.2387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1367T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004310196Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Aug 25, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI).

Vijayakumar R, Silva JNA, Desouza KA, Abraham RL, Strom M, Sacher F, Van Hare GF, Haïssaguerre M, Roden DM, Rudy Y.

Circulation. 2014 Nov 25;130(22):1936-1943. doi: 10.1161/CIRCULATIONAHA.114.011359. Epub 2014 Oct 7.

PubMed [citation]
PMID:
25294783
PMCID:
PMC4245321

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, SCV004310196.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 518748). This missense change has been observed in individual(s) with long QT syndrome (PMID: 25294783). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 796 of the KCNH2 protein (p.Val796Gly).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024