ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)

dbSNP: rs779383393
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557025 SCV001778717 uncertain significance not provided 2020-01-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27485560, 27041150)
Labcorp Genetics (formerly Invitae), Labcorp RCV001857668 SCV002295538 pathogenic Long QT syndrome 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 351 of the KCNQ1 protein (p.Phe351Leu). This variant is present in population databases (rs779383393, gnomAD 0.003%). This missense change has been observed in individual(s) with Jervell and Lange-Nielsen syndrome or long QT syndrome (PMID: 27041150, 27485560; internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 207968). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KCNQ1 protein function. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000234806 SCV004041541 likely pathogenic Long QT syndrome 1 2023-08-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001557025 SCV005413966 likely pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing PP3, PM1, PM2, PM3, PS4_moderate
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV000234806 SCV000240218 pathogenic Long QT syndrome 1 2013-01-01 no assertion criteria provided research

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