ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) (rs199472759)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182311 SCV000234614 pathogenic not provided 2020-01-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar as pathogenic and likely pathogenic (ClinVar Variant ID# 52929; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Published functional studies in both Xenopus oocytes and Chinese hamster ovary cells demonstrated that F339S causes a reduced delayed rectifier channel current (Yang et al., 2009; Hoosien et al., 2013); This variant is associated with the following publications: (PMID: 17905336, 17224687, 19808498, 23291057, 24667783, 26669661, 31737537)
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000515709 SCV000611760 pathogenic Long QT syndrome 1 2017-07-28 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000515709 SCV000883302 likely pathogenic Long QT syndrome 1 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Long QT syndrome 1, autosomal dominant. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/19808498).
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057525 SCV000089044 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:17224687;PMID:17905336;PMID:19808498). 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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