ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)

gnomAD frequency: 0.00001  dbSNP: rs570983410
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705393 SCV000834387 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000705393 SCV000897505 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270979 SCV002554785 uncertain significance Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270980 SCV002554786 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536397 SCV003564582 uncertain significance Inborn genetic diseases 2021-04-29 criteria provided, single submitter clinical testing The c.2062G>A (p.G688S) alteration is located in exon 19 (coding exon 19) of the KCNT1 gene. This alteration results from a G to A substitution at nucleotide position 2062, causing the glycine (G) at amino acid position 688 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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