ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro)

dbSNP: rs1588977010
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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 RCV001003322 SCV001161406 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.770T>C has been designated as a variant of uncertain significance. This variant has been identified in a patient diagnosed with Farber disease characteristic of the Type 3 Farber disease phenotype discussed in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). It was revealed through gene sequencing the patient has homozygous L257P (c.770T>C) variants in the ASAH1 gene. Fibroblast cultures showed highly elevated levels of undegraded ceramide compared with normal controls.

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