ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.655+5G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003603470 SCV004396270 uncertain significance Argininosuccinate lyase deficiency 2023-06-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ASL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the ASL gene. It does not directly change the encoded amino acid sequence of the ASL protein. It affects a nucleotide within the consensus splice site.
Mayo Clinic Laboratories, Mayo Clinic RCV004790585 SCV005409260 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing PP4, PM2, PM3_supporting

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