ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1945+1G>C

dbSNP: rs794728487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003177767 SCV003864699 likely pathogenic Cardiovascular phenotype 2022-12-30 criteria provided, single submitter clinical testing The c.1945+1G>C intronic variant results from a G to C substitution one nucleotide after coding exon 7 of the KCNH2 gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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