ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.111_133del (p.Asp38fs)

dbSNP: rs1554326267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670972 SCV000795903 likely pathogenic Argininosuccinate lyase deficiency 2017-11-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670972 SCV004200578 likely pathogenic Argininosuccinate lyase deficiency 2023-10-19 criteria provided, single submitter clinical testing
Invitae RCV000670972 SCV004538775 pathogenic Argininosuccinate lyase deficiency 2023-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp38Glnfs*27) in the ASL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASL are known to be pathogenic (PMID: 2263616, 24166829). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ASL-related conditions. ClinVar contains an entry for this variant (Variation ID: 555199). For these reasons, this variant has been classified as Pathogenic.

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