ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser)

dbSNP: rs1588974267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Affairs, Dicerna Pharmaceuticals RCV001003324 SCV001161408 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only Variant c.959A>G has been classified as likely pathogenic using the following rationale. The patient described in Bashyam et al., 2014, doi: 10.1111/cge.12316 was diagnosed with early-onset, severe Farber disease symptoms characteristic of Type 1 Farber disease idscussed in Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). Genetic sequencing revealed homozygous c.959A>G variants that were inherited from the parents according to biparental segregation. Variant affects on protein structure were predicted using HANSA software. Variant c.959A>G is predicted to abolish H-bonds altering the catalytic site structure. Additionally, variant N320D has been recorded in Clinvar as pathogenic. It is suggested that transition of the amino acid at position 320 negatively affects acid ceramidase activity and supports the likely pathogenic status of c.959A>G.
Revvity Omics, Revvity RCV001784545 SCV002024368 likely pathogenic not provided 2019-07-23 criteria provided, single submitter clinical testing

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