ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)

gnomAD frequency: 0.00006  dbSNP: rs1003586835
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701339 SCV000830136 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001538972 SCV001756694 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV001839019 SCV002098988 uncertain significance Developmental and epileptic encephalopathy, 14 2021-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026553 SCV004893018 uncertain significance Inborn genetic diseases 2023-10-28 criteria provided, single submitter clinical testing The c.32G>A (p.G11E) alteration is located in exon 1 (coding exon 1) of the KCNT1 gene. This alteration results from a G to A substitution at nucleotide position 32, causing the glycine (G) at amino acid position 11 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV000701339 SCV004228975 not provided Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 no assertion provided phenotyping only Variant interpreted as Likely benign and reported on 03-06-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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