ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter)

dbSNP: rs1588982399
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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 RCV001003326 SCV001161410 likely pathogenic Farber lipogranulomatosis 2019-06-19 criteria provided, single submitter literature only The clinical significance for this variant c.412G>T is likely pathogenic given the following reasons. Patient is described as an infant with Type 3 or mild Farber disease (Gene Reviews; https://www.ncbi.nlm.nih.gov/books/NBK488189/). Variant c.412G>T was identified by sequencing through cDNA sequencing and confirmed at the genomic level. Although functional testing has not been completed for this variant, the predicted base change would result in a substitution of glutamate 138 to a stop codon (E138X, nonsense mutation) resulting in a truncated and inactive protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860535 SCV002239645 pathogenic not provided 2024-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu138*) in the ASAH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASAH1 are known to be pathogenic (PMID: 24164096, 24355074). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Farber disease (PMID: 11241842). ClinVar contains an entry for this variant (Variation ID: 812496). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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