ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.919_921+9del

dbSNP: rs794728557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182272 SCV000234575 likely pathogenic not provided 2016-08-15 criteria provided, single submitter clinical testing The c.919_921+9del12 variant in the KCNQ1 gene has not been reported to our knowledge. The c.919_921+9del12 variant results in a 12-bp deletion of the exonic GTG nucleotides and intronic gtaagtcgg nucleotides spanning an exon-intron boundary. This variant is expected to destroy the splice donor site of intron 6. The c.919_921+9del12 variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. While the c.919_921+9del12 variant has not been published, it is expected to be pathogenic, as loss of function variants in this gene are strongly associated with this phenotype.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000182272 SCV000747966 pathogenic not provided 2016-05-30 criteria provided, single submitter clinical testing

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