ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val) (rs118192205)

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Total submissions: 1
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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 RCV000853266 SCV000996097 likely pathogenic Early infantile epileptic encephalopathy 7 2018-01-06 criteria provided, single submitter clinical testing This c.727C>G (p.Leu243Val) variant has not been reported in the literature to our knowledge. However, a variant affecting the same nucleotide position but resulting in a different amino acid change (p.Leu243Phe) was detected in multiple individuals with neonatal seizures from a single family (PMID: 14534157). Additionally, studies have shown that the p.Leu243Phe variant is functionally consequential (PMID: 14534157, 11278406). This variant is absent from the gnomAD population database, thus it is presumed to be rare. This variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.727C>G (p.Leu243Val) variant is classified as likely pathogenic.

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