ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) (rs1574290850)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986916 SCV001136071 uncertain significance Severe myoclonic epilepsy in infancy 2020-11-08 criteria provided, single submitter clinical testing The substitution p.Met135Thr is a highly conserved and rare variant (not present in GnomAD V2, V3 and TopMed), detected in a patient with recurrent febrile seizures which inherited it from her mother, who also had febrile seizures. At this moment, we are unable to know if this variant is responsible for this phenotype, and we classified it as a variant of unknown significance.

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