ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.718+5G>A

dbSNP: rs869312990
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SNPedia RCV000210713 SCV000266826 pathogenic Argininosuccinate lyase deficiency criteria provided, single submitter literature only
Counsyl RCV000210713 SCV000797624 uncertain significance Argininosuccinate lyase deficiency 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000210713 SCV000945625 likely pathogenic Argininosuccinate lyase deficiency 2021-05-21 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the ASL gene. It does not directly change the encoded amino acid sequence of the ASL protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with argininosuccinate lyase deficiency (PMID: 12384776). This variant is also known as IVS9+5G>A. ClinVar contains an entry for this variant (Variation ID: 224975). Studies have shown that this variant is associated with skipping of exon 9 but is expected to preserve the integrity of the reading frame (PMID: 12384776). 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.

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