ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.634del (p.Ile211_Met212insTer)

dbSNP: rs2138661266
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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 RCV001781127 SCV002043772 pathogenic Rett syndrome, congenital variant 2021-10-28 criteria provided, single submitter clinical testing The c.634delA variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC) Genome Aggregation Database (gnomAD) and dbSNP. The variant is not present in Indian Exome Database and in our in-house exome database. The variant was not earlier reported to ClinVar, Human Genome Mutation Database (HGMD) and OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome etc. predicted this variant to be likely disease causing. The deletion causes a frameshift and creates a premature stop codon at the 212 amino acid position of the altered transcript that either may result into a truncated protein or nonsense mediated decay of the mRNA.

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