ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro)

dbSNP: rs1588986195
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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 RCV001003333 SCV001161418 likely pathogenic Farber lipogranulomatosis 2019-07-01 criteria provided, single submitter literature only Variant c.314T>C is a variant of likely pathogenic. The patient was diagnosed with severe Farber disease characteristic of Type 1 Farber disease as described by Gene Reviews ( Histology of subcutaneous nodules showed the presence of foamy (lipid-filled) macrophages characteristic of Farber disease which is consistent with Farber disease.

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