ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)

gnomAD frequency: 0.00001  dbSNP: rs769683272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001780646 SCV002190522 pathogenic not provided 2021-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp62*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ASAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1323941). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002482308 SCV002791708 likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis 2021-09-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738381 SCV005363649 likely pathogenic ASAH1-related disorders 2024-06-03 no assertion criteria provided clinical testing The ASAH1 c.234G>A variant is predicted to result in premature protein termination (p.Trp78*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in ASAH1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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