ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.121_125+19del

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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 RCV002465012 SCV002759404 likely pathogenic Farber lipogranulomatosis 2022-07-01 criteria provided, single submitter clinical testing The c.169_173+19del variant was identified as a part of carrier screening. This variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Genome Aggregation Database (gnomAD) and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not reported to ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like CADD, Varsome etc. predicted this variant to be likely deleterious. The deletion spans exon2 to intron2 (encompasses ±2 of splice-site) and expected to affect splicing of mRNA.

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