ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1887+5G>A (rs777916008)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000416080 SCV000333183 uncertain significance not provided 2015-08-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416080 SCV000493666 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000416080 SCV000565096 likely pathogenic not provided 2015-12-04 criteria provided, single submitter clinical testing The c.1887+5G>A variant in the KCNQ2 gene has been reported previously in association with benign familial neonatal-infantile seizures in two individuals from the same family (Zara et al., 2013). This variant reduces the quality of the splice donor site in intron 16, and is expected to cause abnormal gene splicing. The c.1887+5G>A variant was not observed in approximately 6480 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1887+5G>A variant is a strong candidate for a pathogenic variant; however, the possibility it may be a rare benign variant cannot be excluded.
GeneReviews RCV000678201 SCV000484650 pathogenic Benign familial neonatal seizures 1 2016-03-31 no assertion criteria provided literature only BFNIS (benign familial neonatal-infantile seizures); FS (febrile seizures)

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