ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.632C>T (p.Ser211Phe) (rs199472758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045928 SCV000073941 likely pathogenic Long QT syndrome 2016-09-26 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 338 of the KCNQ1 protein (p.Ser338Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency) . This variant was reported in an individual and also a family affected with long QT syndrome (PMID: 19862833, 23291057). ClinVar contains an entry for this variant (Variation ID: 52928). This variant identified in the KCNQ1 gene is located in the transmembrane S6 region of the resulting protein (PMID: 19841300, 25348405). For more information about the location of this variant, please visit www.invitae.com/KCNQ1-topology. In an experimental study using a model organism, this variant was not shown to affect trafficking to the membrane but it was shown to affect conductance across the channel (PMID:23291057). In summary, this variant is a rare missense change that has been reported in several individuals affected with lQT and has some some evidence of causing a deleterious effect on protein function. Therefore, it has been classified as Likely Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057523 SCV000089042 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19862833). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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