ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2795T>C (p.Phe932Ser) (rs1564383774)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680017 SCV000807456 uncertain significance Early infantile epileptic encephalopathy 14 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 3-year-old female with early-onset epilepsy, failure to thrive, global delays, hemidystonic movements, microcephaly, poor eye contact, nystagmus, cortical atrophy, hypoplastic corpus callosum. Additionally, another mutation affecting this same amino acid has been reported as pathogenic.

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