ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) (rs1564367605)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720741 SCV000851622 likely pathogenic Seizures 2018-01-25 criteria provided, single submitter clinical testing The p.A477T variant (also known as c.1429G>A), located in coding exon 15 of the KCNT1 gene, results from a G to A substitution at nucleotide position 1429. The alanine at codon 477 is replaced by threonine, an amino acid with similar properties. This alteration was detected as a de novo occurrence in an individual with epilepsy of infancy with migrating focal seizures (EIMFS) (Ohba C et al. Epilepsia, 2015 Sep;56:e121-8). In addition, this variant has been determined to be the result of a de novo mutation or germline mosaicism in one family with an isolated case of intractable seizures (Ambry internal data).This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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