ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn)

gnomAD frequency: 0.00001  dbSNP: rs146193090
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416241 SCV000493498 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766050 SCV000897506 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000766050 SCV000933327 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-04-30 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 374646). This variant has not been reported in the literature in individuals affected with KCNT1-related conditions. 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 aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1231 of the KCNT1 protein (p.Asp1231Asn).
Genome-Nilou Lab RCV002270245 SCV002554853 uncertain significance Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270246 SCV002554854 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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