ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)

gnomAD frequency: 0.00006  dbSNP: rs147654995
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594843 SCV000707712 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001215111 SCV001386835 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000594843 SCV001987999 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV002270721 SCV002554844 uncertain significance Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270722 SCV002554845 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001215111 SCV002782187 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2021-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532586 SCV003611460 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.3575C>T (p.P1192L) alteration is located in exon 30 (coding exon 30) of the KCNT1 gene. This alteration results from a C to T substitution at nucleotide position 3575, causing the proline (P) at amino acid position 1192 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.