ClinVar Miner

Submissions for variant NC_000007.14:g.(?_150974691)_(150977933_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557837 SCV000627365 pathogenic Long QT syndrome 2018-01-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 of the KCNH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the KCNH2 gene. This is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 19862833). This variant has not been reported in the literature in individuals with KCNH2-related disease.

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