ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) (rs1588344733)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820357 SCV000961066 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2018-12-22 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 409 of the KCNT1 protein (p.Pro409Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Early infantile epileptic encephalopathy  (PMID: 26140313). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000988290 SCV001137956 likely pathogenic Early infantile epileptic encephalopathy 14 2019-05-28 criteria provided, single submitter clinical testing

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