ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4418T>A (p.Ile1473Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004771826 SCV005382591 likely pathogenic Developmental and epileptic encephalopathy, 11 2024-09-27 criteria provided, single submitter clinical testing The c.4418T>A variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in the literature in individuals affected with SCN2A-related conditions nor reported to the clinical databases like Human Genome Mutation Database (HGMD), ClinVar or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, MutationTaster2, Varsome, Franklin, InterVar etc predicted this variant to be likely deleterious. This variant is located in a mutational hotspot region of the gene and different amino acid changes in the same codon (Ile1473Thr, Ile1473Met) have been observed in affected individuals, published in literature several times and reported to the clinical databases as ‘Pathogenic / Likely pathogenic’ by multiple submitters.

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