ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro) (rs199472705)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232681 SCV000283887 pathogenic Long QT syndrome 2016-06-24 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 209 of the KCNQ1 protein (p.Ser209Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with familial lone atrial fibrillation in a family (PMID: 19632626). In an experimental study this variant was shown to result in a gain of function,channels carrying this variant activated faster but deactivated slower than non-carriers (PMID: 19632626). A different missense substitution at this codon (p.Ser209Phe) is reported to be deleterious (PMID: 25444851, 20421371). This indicates that the serine residue is important for KCNQ1 protein function. In summary, this is a rare variant which has been shown to segregate with disease in a family and affects a residue which is important for KCNQ1 function. For this reason it has been classified as Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057725 SCV000089244 not provided Atrial fibrillation no assertion provided literature only This variant has been reported as associated with Atrial fibrillation in the following publications (PMID:19632626). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
OMIM RCV000115006 SCV000148915 pathogenic Atrial fibrillation, familial, 3 2009-08-01 no assertion criteria provided literature only

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