ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.349-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1395478201
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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 RCV001377366 SCV001574686 likely pathogenic Argininosuccinate lyase deficiency 2023-09-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1066380). Disruption of this splice site has been observed in individual(s) with argininosuccinate lyase deficiency (PMID: 28251416). This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change affects an acceptor splice site in intron 5 of the ASL gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ASL are known to be pathogenic (PMID: 2263616, 24166829). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV001377366 SCV004200600 pathogenic Argininosuccinate lyase deficiency 2023-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001377366 SCV005674401 likely pathogenic Argininosuccinate lyase deficiency 2024-03-14 criteria provided, single submitter clinical testing

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