NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 13, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000182084.2

Allele description [Variation Report for NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro)]

NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro)

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.179T>C (p.Leu60Pro)
Other names:
p.L187P:CTC>CCC
HGVS:
  • NC_000011.10:g.2570710T>C
  • NG_008935.1:g.130720T>C
  • NM_000218.2:c.560T>C
  • NM_181798.1:c.179T>C
  • NP_000209.2:p.Leu187Pro
  • NP_861463.1:p.Leu60Pro
  • LRG_287t1:c.560T>C
  • LRG_287t2:c.179T>C
  • LRG_287:g.130720T>C
  • LRG_287p1:p.Leu187Pro
  • LRG_287p2:p.Leu60Pro
  • NC_000011.9:g.2591940T>C
Protein change:
L187P
Links:
dbSNP: rs199473399
NCBI 1000 Genomes Browser:
rs199473399
Molecular consequence:
  • NM_000218.2:c.560T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.179T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000234387GeneDxcriteria provided, single submitter
Pathogenic
(May 13, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234387.9

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

Description

p.Leu187Pro (CTC>CCC): c.560 T>C in exon 3 of the KCNQ1 gene (NM_000218.2). The L187P mutation in the KCNQ1 gene has been reported previously in association with LQTS (Zhang X et al., 2008). The L187P mutation was found to co-segregate with the LQTS phenotype in the 7 generations a large family with LQTS, and this mutation was absent in 200 control individuals (Zhang X et al., 2008). In addition, the L187P mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Located in the linker between the S2 and S3 domains, the L187 residue is not uniformly conserved across species, however variation is limited to similar non-polar amino acids. The L187P mutation results in a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Furthermore, mutations in nearby codons (G186R, G186S, G189R, G189E) have also been reported in association with LQTS, further supporting the functional importance of this region of the protein. In summary, L187P in the KCNQ1 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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

Last Updated: Oct 8, 2021

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