ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1512del (p.Arg505fs) (rs397508104)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000046039 SCV000074052 pathogenic Long QT syndrome 2015-05-14 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 16 of the KCNQ1 mRNA (c.1893delC), causing a frameshift at codon 632. This creates a premature translational stop signal (p.Arg632Glufs*34) and is expected to result in an absent or disrupted protein product. Truncating variants in KCNQ1 are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with long QT syndrome (PMID: 16414944, 22739119). For these reasons, this variant has been classified as Pathogenic.
Color Health, Inc RCV001188333 SCV001355370 likely pathogenic Arrhythmia 2018-10-25 criteria provided, single submitter clinical testing

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