ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro)

gnomAD frequency: 0.00003  dbSNP: rs377749094
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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 RCV001003317 SCV001161401 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.677G>C has been classified as likely pathogenic using the following rationale. Two siblings described in Bashyam et al., 2014, doi: 10.1111/cge.12316 were diagnosed with Farber disease characteristic of Type 1 Farber disease discussed in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). Compound heterozygous variants in the ASAH1 gene, c.677G>C and c.1084C>A, were identified and biparental segregation was noted. Structural analysis using HANSA software predicted variant pathogenicity due to loss of an H-bond resulting in destabilization of catalytic triad structure.

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