ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu)

dbSNP: rs895669204
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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 RCV001003323 SCV001161407 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.833C>T is likely pathogenic based on the following rationale. Variant c.833C>T has been identified in 3 patients diagnosed with Farber disease. Ehlert et al., 2017, DOI: 10.1002/jimd.12043, reports 2 siblings diagnosed with severe Farber disease consistent with Type 1 Farber disease described in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). Both children underwent HSCT at ages 2 and 2 years 8 months, respectively, because HCST is the only Farber disease treatment option presently. Subcutaneous nodules resolved in both patients post-transplant. Additionally, a third patient from an unrelated family was described in Levade et al., DOI: 10.1036/ommbid.173, adding to the clinical significance of this variant. The number of patients diagnosed with Farber disease from unrelated families with Farber disease and the patient's response to treatment discussed in the Ehlert et al., 2017 publication supports the clinical significance of likely pathogenic.

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