ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)

gnomAD frequency: 0.00003  dbSNP: rs1360863995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034726 SCV001198019 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-17 criteria provided, single submitter clinical testing
New York Genome Center RCV001034726 SCV002025752 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2020-05-08 criteria provided, single submitter clinical testing The inherited c.2201A>G (p.Asp734Gly) variant in exon 19 of 31of KCNT1 has not been reported in affected individuals in the available literature. This variant is present in gnomADat a very lowfrequency (3/31370 alleles, AF=0.00009563, 0 homozygotes) indicating it is not a common benign variant in the populations represented in this database. In silico predictors suggest this variant is Damaging(Provean; score: -4.75) and Damaging (SIFT; score: 0.0017). Given the lack of functional evidence regarding its pathogenicity, the inherited c.2201A>G (p.Asp734Gly) variant identified in the KCNT1 gene is reported as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV002271164 SCV002554796 uncertain significance Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271165 SCV002554797 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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