NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) AND Long QT syndrome 2

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Apr 30, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000015526.29

Allele description [Variation Report for NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val)]

NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val)

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_000238.3(KCNH2):c.2738C>T (p.Ala913Val)
Other names:
p.A913V:GCG>GTG
HGVS:
  • NC_000007.14:g.150947833G>A
  • NG_008916.1:g.35094C>T
  • NM_000238.3:c.2738C>T
  • NM_172056.2:c.*484+1582C>T
  • NM_172057.2:c.1718C>T
  • NP_000229.1:p.Ala913Val
  • NP_742054.1:p.Ala573Val
  • LRG_288t1:c.2738C>T
  • LRG_288t2:c.*484+1582C>T
  • LRG_288t3:c.1718C>T
  • LRG_288:g.35094C>T
  • LRG_288p1:p.Ala913Val
  • LRG_288p3:p.Ala573Val
  • NC_000007.13:g.150644921G>A
  • NM_000238.2:c.2738C>T
  • NM_172056.1:c.*2066C>T
  • Q12809:p.Ala913Val
Protein change:
A573V; ARG913VAL
Links:
UniProtKB: Q12809#VAR_068282; OMIM: 152427.0024; dbSNP: 77331749
NCBI 1000 Genomes Browser:
rs77331749
Molecular consequence:
  • NM_000238.3:c.2738C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Long QT syndrome 2 (LQT2)
Synonyms:
LONG QT SYNDROME 2, ACQUIRED, REDUCED SUSCEPTIBILITY TO
Identifiers:
MedGen: C3150943; Orphanet: 101016; Orphanet: 768; OMIM: 613688

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035791OMIMno assertion criteria providedPathogenic
(Nov 14, 2006)
germlineliterature only

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

SCV000206998Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Apr 30, 2015)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Heart Rhythm. 2005 May;2(5):507-17.

PubMed [citation]
PMID:
15840476

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA.

Circulation. 2006 Nov 14;114(20):2104-12. Epub 2006 Oct 23.

PubMed [citation]
PMID:
17060380
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000035791.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 2 unrelated patients with long QT syndrome (LQT2; 613688), Tester et al. (2005) identified a 2738C-T transition in exon 12 of the KCNH2 gene, resulting in an ala913-to-val (A913V) substitution in the C terminus.

In a 14-year-old girl with long QT syndrome (see 613688), Vatta et al. (2006) identified biallelic digenic mutations: the A913V mutation in the KCNH2 gene and a T78M mutation in the LQT9-associated CAV3 gene (601253.0018). The patient had nonexertional syncope and a 'seizure-like' presentation, with U waves, sinus bradycardia, and a QTc of 405 ms on ECG; she had a positive family history, but family members declined further genotyping.

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

From Blueprint Genetics, SCV000206998.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: May 3, 2018