ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1635C>T (p.Tyr545=) (rs200692436)

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Total submissions: 5
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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 RCV001087028 SCV000752951 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001159680 SCV001321408 uncertain significance Long QT syndrome 2 2018-08-16 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color RCV001180312 SCV001345211 likely benign Arrhythmia 2019-09-09 criteria provided, single submitter clinical testing

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