ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034199 SCV001197530 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-02-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001270712 SCV001451457 uncertain significance Epilepsy, nocturnal frontal lobe, 5 2019-03-06 criteria provided, single submitter clinical testing The KCNT1 c.3544A>C (p.Ile1182Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found through this search. This variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database. This frequency is based on one allele only in a region of good sequencing coverage, so the variant is presumed to be rare. The p.Ile1182Leu variant is not located in a known functional domain, and in silico algorithms differ in their predictions about the consequence of this variant. Missense variants are a known cause of KCNT1-related epilepsy, but considerable benign missense variation in this gene has been reported. Based on the limited evidence available, the p.Ile1182Leu variant is classified as a variant of uncertain significance for KCNT1-related epilepsy.

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