ClinVar Miner

Submissions for variant NM_000238.3(KCNH2):c.1341C>T (p.Tyr447=) (rs367570298)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768001 SCV000898770 uncertain significance Short QT syndrome 1; Long QT syndrome 2 2018-04-23 criteria provided, single submitter clinical testing KCNH2 NM_000238.3 exon 6 p.Tyr447= (c.1341C>T): This variant has not been reported in the literature but is present in 5/126272 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs367570298). This variant is present in ClinVar (Variation ID:413336). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000464544 SCV000555906 likely benign Long QT syndrome 2016-11-01 criteria provided, single submitter clinical testing

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