ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr)

dbSNP: rs1588973247
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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 RCV001003318 SCV001161402 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.1084C>A is likely pathogenic for the following reasons. 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 ( Compound heterozygous variants in the ASAH1 gene, c.677G>C and c.1084C>A, were identified and biparental segregation was noted. Structural analysis was predicted to be pathogenic when analyzing variant, c.1084C>A, using HANSA software. Disruption of backbone rigidity maintained by Proline is predicted resulting in pathogenicity of the variant.

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