ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2903G>A (p.Arg968His)

gnomAD frequency: 0.00001  dbSNP: rs1325608473
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650637 SCV000772484 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2021-05-05 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KCNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 540569). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 968 of the KCNT1 protein (p.Arg968His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine.
Ambry Genetics RCV002440357 SCV002751871 uncertain significance Inborn genetic diseases 2018-02-28 criteria provided, single submitter clinical testing The p.R968H variant (also known as c.2903G>A), located in coding exon 25 of the KCNT1 gene, results from a G to A substitution at nucleotide position 2903. The arginine at codon 968 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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