ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr) (rs199472676)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505725 SCV000234552 uncertain significance not specified 2016-12-14 criteria provided, single submitter clinical testing The P73T variant in the KCNQ1 gene has been reported in several individuals who underwent genetic testing for LQTS (Tester et al., 2005); however additional clinical information was not included. In addition, the P73T variant was classified as a variant of uncertain significance based on in silico prediction models (Giudicessi et al., 2012). Riuro et al. (2014) reported P73T in a patient with LQTS; however, P73T was on the same allele (in cis) as the G168R (c.502 G>A) pathogenic variant and the patient also harbored a frameshift variant in the KCNQ1 gene that was on the opposite allele (in trans). Stattin et al. (2012) also reported the P73T variant in a patient with LQTS who also harbored a variant in the SCN5A gene. The P73T variant was observed in 11/14368 (0.076%) alleles from individuals of non-Finnish European background in the Exome Aggregation Consortium (ExAC) data set, although no individuals within this control group were reported as homozygous for this variant. The P73T variant is 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. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, we interpret P73T as a variant of uncertain significance.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415717 SCV000493748 uncertain significance Short QT syndrome 2 2015-10-23 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415657 SCV000493749 uncertain significance Long QT syndrome 1 2015-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620808 SCV000737803 uncertain significance Cardiovascular phenotype 2019-02-22 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000627157 SCV000748008 uncertain significance Long QT syndrome 2017-06-28 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057655 SCV000089174 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:15840476;PMID:19716085;PMID:19841300). 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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