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NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 18, 2012
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:
RCV000182152.2

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe)]

NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe)

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_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe)
Other names:
p.I337F:ATC>TTC
HGVS:
  • NC_000011.10:g.2583522A>T
  • NG_008935.1:g.143532A>T
  • NM_000218.3:c.1009A>TMANE SELECT
  • NM_001406836.1:c.1009A>T
  • NM_001406837.1:c.739A>T
  • NM_001406838.1:c.565A>T
  • NM_181798.2:c.628A>T
  • NP_000209.2:p.Ile337Phe
  • NP_000209.2:p.Ile337Phe
  • NP_001393765.1:p.Ile337Phe
  • NP_001393766.1:p.Ile247Phe
  • NP_001393767.1:p.Ile189Phe
  • NP_861463.1:p.Ile210Phe
  • NP_861463.1:p.Ile210Phe
  • LRG_287t1:c.1009A>T
  • LRG_287t2:c.628A>T
  • LRG_287:g.143532A>T
  • LRG_287p1:p.Ile337Phe
  • LRG_287p2:p.Ile210Phe
  • NC_000011.9:g.2604752A>T
  • NM_000218.2:c.1009A>T
  • NM_181798.1:c.628A>T
  • NR_040711.2:n.902A>T
Protein change:
I189F
Links:
dbSNP: rs794728520
NCBI 1000 Genomes Browser:
rs794728520
Molecular consequence:
  • NM_000218.3:c.1009A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.1009A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.739A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406838.1:c.565A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.628A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234455GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 18, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234455.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Ile337Phe (ATC>TTC): c.1009 A>T in exon 7 of the KCNQ1 gene (NM_000218.2). The Ile337Phe variant in the KCNQ1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ile337Phe results in a semi-conservative amino acid substitution of a non-polar Isoleucine with a large, non-polar Phenylalanine at a position that is conserved across species. In silico analysis predicts Ile337Phe is probably damaging to the protein structure/function. Mutations in nearby residues (Ser338Phe, Phe339Ser, Phe339Tyr) have been reported in association with LQTS, further supporting the functional importance of this region of the protein. Furthermore, the NHLBI ESP Exome Variant Server reports Ile337Phe was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, while Ile337Phe is a good candidate for a disease-causing mutation, with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant. The variant is found in LQT panel(s).

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

Last Updated: Sep 29, 2024