ClinVar Miner

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

dbSNP: rs1588344733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820357 SCV000961066 pathogenic Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 409 of the KCNT1 protein (p.Pro409Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (PMID: 26140313; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 662662). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KCNT1 protein function. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000988290 SCV001137956 likely pathogenic Developmental and epileptic encephalopathy, 14 2019-05-28 criteria provided, single submitter clinical testing

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