ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu)

dbSNP: rs1588982421
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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 RCV001003302 SCV001161385 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Likely pathogenic has been assigned to variant c.408T>A for the following reasons. Patient was diagnosed with severe Farber disease described as Type 1 Farber disease in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). The child has compound heterozygous variants in the ASAH1 gene. Skin biopsy showed diffuse fibroblastic proliferation with diffuse chronic inflammatory cell infiltrates in the dermis with fat and foamy macrophages present in-between the fibroblasts which is characteristic of Farber disease. Both sequence and structural analysis predicts this variant is insignificant to protein function. Although prediction analysis shows neurality of this variant, the presence of lipid-filled macrophages and the severe Farber presentation indicates the variant is likely pathogenic.

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