ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.208del (p.Ala70fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003018171 SCV003305945 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ASAH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala70Hisfs*4) 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). ClinVar contains an entry for this variant (Variation ID: 2088721). For these reasons, this variant has been classified as Pathogenic.

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