ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2376C>T (p.Gly792=) (rs745993706)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430474 SCV000513228 likely benign not specified 2017-07-24 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.
Invitae RCV000465907 SCV000543468 uncertain significance Long QT syndrome 2016-07-24 criteria provided, single submitter clinical testing This sequence change affects codon 792 of the KCNH2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KCNH2 protein. This variant is present in population databases (rs745993706, ExAC <0.01%) but has not been reported in the literature in individuals with a KCNH2-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000617758 SCV000737432 likely benign Cardiovascular phenotype 2017-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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