ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter)

dbSNP: rs1600732174
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004794474 SCV001161678 pathogenic Seizures, benign familial neonatal, 1 2020-02-11 criteria provided, single submitter clinical testing A heterozygous nonsense variation in exon 8 of the KCNQ2 gene that results in stop codon and premature truncation of protein at codon 360 was detected. The observed variant c.1080G>A (p.Trp360Ter) has not been reported in the 1000 Genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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