ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.413A>G (p.Glu138Gly)

dbSNP: rs137853594
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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 RCV002250396 SCV002520616 likely pathogenic Farber lipogranulomatosis 2022-05-20 criteria provided, single submitter clinical testing The c.461A>G 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 previously reported to ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD, Varsome, InterVar etc. predicted this variant to be likely deleterious. The variant is located in a dense mutational hotspot region of the gene where other pathogenic missense variants has been identified and reported. An alternative variant in the same position (c.461A>T, p.Glu154Val) was previously reported to ClinVar (Accession: VCV000000092.2) and HGMD (ID: CM993321) as pathogenic/likely pathogenic in association with Farber disease (PMID: 10610716).

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