ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1510+4C>T

gnomAD frequency: 0.00005  dbSNP: rs554828530
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193075 SCV000247673 uncertain significance not specified 2015-08-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000999281 SCV001155838 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV001070189 SCV001235405 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-04-28 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 211240). This variant has not been reported in the literature in individuals affected with KCNT1-related conditions. This variant is present in population databases (rs554828530, gnomAD 0.02%). This sequence change falls in intron 15 of the KCNT1 gene. It does not directly change the encoded amino acid sequence of the KCNT1 protein. It affects a nucleotide within the consensus splice site.
Genome-Nilou Lab RCV002269965 SCV002554751 uncertain significance Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269966 SCV002554752 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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