ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.839T>C (p.Met280Thr)

gnomAD frequency: 0.00001  dbSNP: rs1419914220
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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 RCV001225308 SCV001338776 uncertain significance Seizures, benign familial infantile, 2 2020-04-23 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 2 of the PRRT2 gene that results in the amino acid substitution of Threonine for Methionine at codon 280 was detected. The observed variant c.839T>C (p.Met280Thr) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by SIFT. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classed as a variant of uncertain significance.

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