ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.704-2A>G

dbSNP: rs1588977181
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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 RCV001003334 SCV001161419 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.752-2A>G has been classifed as likely pathogenic using the following rationale. The patient described in Cozma et al., 2017, DOI:10.1038/s41598-017-06604-2, is a child diagnosed with Farber disease consistent with the Farber disease description in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). Homozygous c.752-2A>G splice site variants in the ASAH1 gene were identified. Additional ceramide 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 according to Cozma et al., 2017.

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