ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.927+1G>A

dbSNP: rs1555870346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578925 SCV000681232 pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing The c.927+1 G>A splice site variant in the KCNQ2 gene destroys the canonical splice donor site for intron 6. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Additionally, a different nucleotide change at this same canonical splice site (c.927+1G>C) has been reported as pathogenic in the published literature in association with a KCNQ2-related disorder (Kwong et al., 2015, Stenson et al., 2014). The c.927+1 G>A variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the c.927+1 G>A is interpreted as pathogenic and its presence is consistent with the diagnosis of of a KCNQ2-related disorder in this individual.
Mayo Clinic Laboratories, Mayo Clinic RCV000578925 SCV002520073 likely pathogenic not provided 2021-07-20 criteria provided, single submitter clinical testing PVS1_strong, PM2

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