ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.697G>T (p.Val233Leu)

dbSNP: rs1592380699
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Total submissions: 2
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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 RCV001090183 SCV001244367 uncertain significance Focal clonic seizure 2020-04-12 criteria provided, single submitter clinical testing The c.697G>T variant is not present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variants are not present in our in-house exome database. The variants were not reported to OMIM, Human Genome Mutation Database (HGMD) or ClinVar databases in any affected individuals. This variant is present in a highly conserved region and in-silico pathogenicity prediction programs like SIFT, PolyPhen-3, MutationTaster2, CADD etc. predicted this variant to be likely deleterious. However there are no documented functional studies to prove this. Due to lack of enough evidence the variant has been classified as uncertain significance.
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research RCV003150822 SCV003836536 pathogenic Developmental and epileptic encephalopathy, 13 2023-03-06 criteria provided, single submitter clinical testing PS2, PM1, PM2, PM5, PP3

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