ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.626G>A (p.Gly209Asp)

dbSNP: rs1588978567
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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 RCV001003315 SCV001161399 uncertain significance Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.626G>A described in Ehlert et al., 2017, DOI: 10.1002/jimd.12043 has been classified as uncertain significance. Patient is compound heterozygous for variants, c.174_175insC and c.626G>A, in the ASAH1 gene. Patient received a HSCT as the only present treatment option for Farber disease at 1.3 years. The patient died shortly after transplant due to acute respiratory distress. Although this variant is classified as uncertain significance, patients identified with this variant should be examined carely for Farber disease signs and symptoms.

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