ClinVar Miner

Submissions for variant NM_000238.3(KCNH2):c.1635C>T (p.Tyr545=) (rs200692436)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432528 SCV000523761 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590102 SCV000696020 benign not provided 2016-10-31 criteria provided, single submitter clinical testing Variant summary: The c.1224T>C (p.Tyr545=) in KCNH2 gene is a synonymous change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control population dataset of ExAC at a frequency of 0.00014 (16/118420 chrs tested), predominantly in individuals of East Asian descent (0.0013; 11/8596 chrs tested). These frequencies exceed the estimated maximal expected allele frequency of a pathogenic variant in KCNH2 gene (0.0001). The variant has not, to our knowledge, been reported in affected individuals or cited by a reputable database/clinical laboratory, but was reported as a polymorphism in healthy Chinese controls (Koo, 2006). Taking together, the variant was classified as Benign.
Invitae RCV000631854 SCV000752951 benign Long QT syndrome 2017-10-26 criteria provided, single submitter clinical testing

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