ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1465T>G (p.Ser489Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001352940 SCV001547243 uncertain significance Generalized epilepsy with febrile seizures plus 2020-04-20 criteria provided, single submitter clinical testing The variant c.1465T>G (p.Ser489Ala) in the SCN9A gene has not been reported in dbSNP, gnomAD or ClinVar. The nucleotide position is moderately conserved across 35 mammalian species (GERP RS: 3.39). In silico analysis gives inconsistent results. Based on ACMG variant interpretation guidelines we classify this variant as uncertain.

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