ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2350-5C>T

gnomAD frequency: 0.00001  dbSNP: rs965133345
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422182 SCV000531162 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001451059 SCV001654678 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-01-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270410 SCV002555477 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270411 SCV002555478 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446727 SCV002733604 uncertain significance Inborn genetic diseases 2019-03-29 criteria provided, single submitter clinical testing The c.2350-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 21 in the KCNT1 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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