NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) AND Jervell and Lange-Nielsen syndrome 1

Clinical significance:Likely benign (Last evaluated: Jun 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)]

NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)

KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
  • NC_000011.10:g.2847847C>T
  • NG_008935.1:g.407857C>T
  • NM_000218.2:c.1875C>T
  • NM_000218.3:c.1875C>TMANE SELECT
  • NM_181798.1:c.1494C>T
  • NP_000209.2:p.Pro625=
  • NP_000209.2:p.Pro625=
  • NP_861463.1:p.Pro498=
  • LRG_287t1:c.1875C>T
  • LRG_287t2:c.1494C>T
  • LRG_287:g.407857C>T
  • LRG_287p1:p.Pro625=
  • LRG_287p2:p.Pro498=
  • NC_000011.9:g.2869077C>T
  • NC_000011.9:g.2869077C>T
dbSNP: rs112113213
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000218.2:c.1875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000218.3:c.1875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181798.1:c.1494C>T - synonymous variant - [Sequence Ontology: SO:0001819]


Jervell and Lange-Nielsen syndrome 1 (JLNS1)
Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; Cardioauditory syndrome of Jervell and Lange-Nielsen; See all synonyms [MedGen]
MONDO: MONDO:0024540; MedGen: C4551509; Orphanet: 768; Orphanet: 90647; OMIM: 220400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000370382Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 7, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000370382.3

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


This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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