ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys)

gnomAD frequency: 0.00001  dbSNP: rs762756953
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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 RCV001003313 SCV001161397 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.538G>A is likely pathogenic. The patient described in Bashyam et al., 2014, doi: 10.1111/cge.12316 was diagnosed with Farber disease characteristic of Type 1 Farber disease discussed in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). Patient was compound heterozygous in the ASAH1 gene for variants, c.383-16_383-12delTTTTC and c.538G>A inherited from her patients and demonstrating biparental segregation. Protein structural analysis was predicted using HANSA software. Variant c.538G>A substitution is predicted to result in abolishing H-bonds that alters the catalytic site structure of the acid ceramidase enzyme.

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