ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.77-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV001524693 SCV001734628 likely pathogenic Arrhythmia 2020-07-28 criteria provided, single submitter clinical testing This variant causes a G to T nucleotide substitution at the -1 position of intron 1 of the KCNH2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. This variant is likely to cause an in-frame skipping of exon 2 (231 bp-long). Multiple pathogenic missense variants have been reported in this exon (Clinvar), indicating the functional importance of the region that may be affected by this variant. Although functional studies have not been reported, this variant is expected to result in a disrupted protein product and impair KCNH2 channel function. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of KCNH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.

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