ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys)

gnomAD frequency: 0.00001  dbSNP: rs748937639
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219577 SCV001391523 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-06-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 948343). 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. 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. This missense change has been observed in individual(s) with clinical features of autosomal dominant nocturnal frontal lobe epilepsy (Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1035 of the KCNT1 protein (p.Glu1035Lys).

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