ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)

dbSNP: rs754629346
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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 RCV000558536 SCV000652926 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-10-16 criteria provided, single submitter clinical testing This variant, c.2061_2066del, results in the deletion of 2 amino acid(s) of the KCNT1 protein (p.Gly691_Gly692del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754629346, gnomAD 0.007%). This variant has been observed in individual(s) with frontal lobe epilepsy (PMID: 32086284). ClinVar contains an entry for this variant (Variation ID: 473368). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV000659137 SCV000780952 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000659137 SCV002504425 likely benign not provided 2018-11-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003409815 SCV004113984 uncertain significance KCNT1-related disorder 2023-06-14 criteria provided, single submitter clinical testing The KCNT1 c.2061_2066del6 variant is predicted to result in an in-frame deletion (p.Gly691_Gly692del). This variant was reported in an individual with frontal lobe epilepsy (Krenn et al 2020. PubMed ID: 32086284). This variant is reported in 0.0092% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-138664610-CGGCGGT-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493639 SCV004243363 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing

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