ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile)

gnomAD frequency: 0.00001  dbSNP: rs778483249
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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 RCV000809850 SCV000950030 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 500 of the KCNT1 protein (p.Val500Ile). This variant is present in population databases (rs778483249, gnomAD 0.004%). 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: 653977). This variant has not been reported in the literature in individuals affected with KCNT1-related conditions.
CeGaT Center for Human Genetics Tuebingen RCV003424351 SCV004158977 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing KCNT1: PM2

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