ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1694G>A (p.Arg565His)

gnomAD frequency: 0.00007  dbSNP: rs769855266
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697531 SCV000718161 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28081520)
Labcorp Genetics (formerly Invitae), Labcorp RCV000815790 SCV000956262 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2025-01-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270760 SCV002555381 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270761 SCV002555382 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258888 SCV003945552 likely benign Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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