ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)

dbSNP: rs1588973202
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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 RCV001003308 SCV001161392 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.1096A>C has been assigned a classification of likely pathogenic. The patient described in Al Jasmi et al, 2012, doi:10.1016/j.braindev.2011.09.006, was diagnosed with Farber disease characteristic of Type 2 Farber disease described in Gene Reviews ( A nerve biopsy showed changes compatible with Farber disease. Compound heterozygous variants were identified in this patient, c.505T>C and c.1096A>C. Additionally, variant c.1096A>C has been identified in an unrelated patient described in Cozma et al., 2018, DOI:10.1038/s41598-017-06604-2. Ceramide C26:0 biomarker testing was completed in this patient along with 9 additional Farber disease patients and 2 SMA-PME patients demonstrating that C26:0 levels were significantly higher in Farber patients and SMA-PME patients compared to controls.

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