ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.890G>A (p.Arg297Gln)

gnomAD frequency: 0.00001  dbSNP: rs750431938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669909 SCV000794709 uncertain significance Argininosuccinate lyase deficiency 2017-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669909 SCV004280482 likely pathogenic Argininosuccinate lyase deficiency 2023-09-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 297 of the ASL protein (p.Arg297Gln). This variant is present in population databases (rs750431938, gnomAD 0.002%). This missense change has been observed in individual(s) with argininosuccinate lyase deficiency (PMID: 19703900). ClinVar contains an entry for this variant (Variation ID: 554299). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ASL protein function. Experimental studies have shown that this missense change affects ASL function (PMID: 19703900). This variant disrupts the p.Arg297 amino acid residue in ASL. Other variant(s) that disrupt this residue have been observed in individuals with ASL-related conditions (PMID: 12384776), which suggests that this may be a clinically significant amino acid residue. 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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