ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.36del (p.Asp12fs)

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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, CSIR - Centre for Cellular and Molecular Biology RCV001090160 SCV001244211 pathogenic Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2020-04-02 criteria provided, single submitter clinical testing The c.36delC 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 variant is not present in our in-house exome database. The variant was not reported to OMIM, Human Genome Mutation Database (HGMD) or ClinVar databases in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD etc. predicted this variant to be likely deleterious. The variant causes a frameshift at 12thamino acid position that creates stop codon at 91thamino acid position of the altered transcript. This may either cause a nonsense mediated decay of the mRNA resulting no protein or a truncated protein due to premature stop codon. The variant has been classified as pathogenic as per the ACMG guidelines.

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