ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.917+5G>A

dbSNP: rs1588974593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Affairs, Dicerna Pharmaceuticals RCV001003336 SCV001161421 likely pathogenic Farber lipogranulomatosis 2019-07-01 criteria provided, single submitter literature only Variant c.917+5G>A is likely pathogenic based on the following rationale. Variant c.917+5G>A has been identified in patient described in Ehlert et al., 2017, DOI: 10.1002/jimd.12043. The patient has been diagnosed with Farber disease characteristic of Type 5 Farber disease described in Gene Reviews ( The variant results in the production of both mutant and wild type transcripts. The patient underwent a HCST which is the only available treatment option for Farber disease. As expected, the subcutaneous granulomas resolved with few subluxations remaining.

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