ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1572+3G>A (rs906562788)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000456102 SCV000539446 uncertain significance not specified 2016-10-20 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: No predicted impact to splicing, only reported in 1 LQT proband
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768000 SCV000898769 uncertain significance Short QT syndrome 1; Long QT syndrome 2 2018-10-29 criteria provided, single submitter clinical testing KCNH2 NM_000238.3 exon 10 c.2592+3G>A: This variant has been reported in the literature in 1 individual with a clinical suspicion of Long QT syndrome (Tester 2005 PMID:15840476). This variant is present in 0.002% (1/34562) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/7-150645941-C-T). This variant is present in ClinVar (Variation ID:402998). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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