ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val) (rs1057516106)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853340 SCV000996200 likely pathogenic Epilepsy, benign neonatal, 1, and/or myokymia 2018-09-28 criteria provided, single submitter clinical testing This variant has been previously reported as heterozygous change in multiple related individuals affected with benign familial neonatal epilepsy (PMID: 24375629). Functional studies indicate that the p.Leu351Val variant has a mild to moderate effect on protein function (PMID: 26073431, 24375629). The variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. In silico analyses support a deleterious effect of the c.1051C>G (p.Leu351Val) variant on protein function. Based on the available evidence, the c.1051C>G (p.Leu351Val) variant is classified as likely pathogenic.
GeneReviews RCV000678158 SCV000484603 pathogenic Benign familial neonatal seizures 1 2016-03-31 no assertion criteria provided literature only BFNE (benign familial neonatal epilepsy)

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