ClinVar Miner

Submissions for variant NM_000238.3(KCNH2):c.2331C>T (p.Thr777=) (rs41307292)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589926 SCV000701670 uncertain significance not provided 2016-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000419773 SCV000513227 likely benign not specified 2016-04-28 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.
Illumina Clinical Services Laboratory,Illumina RCV000262824 SCV000467514 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589926 SCV000696023 benign not provided 2016-10-31 criteria provided, single submitter clinical testing Variant summary: The c.2331T>C (p.Thr777=) in KCNH2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 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 0.0001 (13/120792 chrs tested), predominantly in individuals of East Asian descent (0.001; 9/8618 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 via publications but was reported as a polymorphism in healthy Chinese controls (Koo, 2006). A clinical diagnostic laboratory cites the variant as a "VOUS." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as Benign.

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