ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) (rs777479133)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465729 SCV000553819 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716218 SCV000847055 uncertain significance Seizures 2016-07-06 criteria provided, single submitter clinical testing The p.A774V variant (also known as c.2321C>T), located in coding exon 20 of the KCNT1 gene, results from a C to T substitution at nucleotide position 2321. The alanine at codon 774 is replaced by valine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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