NM_000218.2(KCNQ1):c.350C>T (p.Pro117Leu) AND Long QT syndrome 1

Clinical significance:Pathogenic (Last evaluated: Oct 20, 2001)

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:
RCV000003290.3

Allele description [Variation Report for NM_000218.2(KCNQ1):c.350C>T (p.Pro117Leu)]

NM_000218.2(KCNQ1):c.350C>T (p.Pro117Leu)

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_000218.2(KCNQ1):c.350C>T (p.Pro117Leu)
HGVS:
  • NC_000011.10:g.2445448C>T
  • NG_008935.1:g.5458C>T
  • NM_000218.2:c.350C>T
  • NP_000209.2:p.Pro117Leu
  • LRG_287t1:c.350C>T
  • LRG_287:g.5458C>T
  • LRG_287p1:p.Pro117Leu
  • NC_000011.9:g.2466678C>T
  • P51787:p.Pro117Leu
Protein change:
P117L; PRO117LEU
Links:
UniProtKB: P51787#VAR_074932; OMIM: 607542.0030; dbSNP: 120074191
NCBI 1000 Genomes Browser:
rs120074191
Molecular consequence:
  • NM_000218.2:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 1 (LQT1)
Synonyms:
Romano-Ward syndrome
Identifiers:
MedGen: C0035828; Orphanet: 101016; Orphanet: 768; OMIM: 192500
Prevalence:
1-5 / 10 000 101016768

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023448OMIMno assertion criteria providedPathogenic
(Oct 20, 2001)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Molecular diagnosis in a child with sudden infant death syndrome.

Schwartz PJ, Priori SG, Bloise R, Napolitano C, Ronchetti E, Piccinini A, Goj C, Breithardt G, Schulze-Bahr E, Wedekind H, Nastoli J.

Lancet. 2001 Oct 20;358(9290):1342-3.

PubMed [citation]
PMID:
11684219

Details of each submission

From OMIM, SCV000023448.2

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

Description

Schwartz et al. (2001) identified 2 Italian families with LQT1 (192500) with the same heterozygous 350C-T transition in the KCNQ1 gene, resulting in a pro117-to-leu (P117L) substitution. In 1 family, an infant had died of SIDS and was found postmortem to have a de novo mutation. In the other family, several members had long QT syndrome. The mutation was not found in 800 reference alleles of Italian origin.

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

Last Updated: May 7, 2017