ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.910_916+11del (rs1563169296)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706331 SCV000835374 likely pathogenic Long QT syndrome 2018-06-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 4 (c.910_916+11del) of the KCNH2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KCNH2-related disease. Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 19862833). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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