NM_181798.1(KCNQ1):c.40G>A (p.Val14Met) AND Short QT syndrome 2

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2005)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000417071.1

Allele description [Variation Report for NM_181798.1(KCNQ1):c.40G>A (p.Val14Met)]

NM_181798.1(KCNQ1):c.40G>A (p.Val14Met)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_181798.1(KCNQ1):c.40G>A (p.Val14Met)
HGVS:
  • NC_000011.10:g.2527962G>A
  • NG_008935.1:g.87972G>A
  • NM_000218.2:c.421G>A
  • NM_181798.1:c.40G>A
  • NP_000209.2:p.Val141Met
  • NP_861463.1:p.Val14Met
  • LRG_287t1:c.421G>A
  • LRG_287t2:c.40G>A
  • LRG_287:g.87972G>A
  • LRG_287p1:p.Val141Met
  • LRG_287p2:p.Val14Met
  • NC_000011.9:g.2549192G>A
Protein change:
V141M; VAL141MET
Links:
OMIM: 607542.0045; dbSNP: rs199472687
NCBI 1000 Genomes Browser:
rs199472687
Molecular consequence:
  • NM_000218.2:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short QT syndrome 2 (SQT2)
Identifiers:
MONDO: MONDO:0012313; MedGen: C1865019; Orphanet: 51083; OMIM: 609621

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494620OMIMno assertion criteria providedPathogenic
(Dec 1, 2005)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R.

Cardiovasc Res. 2005 Dec 1;68(3):433-40. Epub 2005 Aug 18.

PubMed [citation]
PMID:
16109388

Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia.

VillafaƱe J, Fischbach P, Gebauer R.

Cardiology. 2014;128(3):236-40. doi: 10.1159/000360758. Epub 2014 May 9. Review.

PubMed [citation]
PMID:
24818999

Details of each submission

From OMIM, SCV000494620.1

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

Description

In a female infant with short QT interval, atrial fibrillation, and bradycardia (SQT2; 609621), Hong et al. (2005) identified heterozygosity for a c.421G-A transition in the KCNQ1 gene, resulting in a val141-to-met (V141M) substitution within transmembrane domain S1. Functional analysis in Xenopus oocytes demonstrated that in contrast to wildtype channels, which exhibited a slowly activating and deactivating voltage-dependent and K(+)-selective current, the V141M mutant channel current developed instantly at all voltages tested, consistent with a constitutively open channel.

In 2 unrelated girls with short QT syndrome, AF, and bradycardia, Villafane et al. (2014) identified heterozygosity for the V141M mutation in the KCNQ1 gene.

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

Last Updated: Oct 16, 2021

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