ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.746G>T (p.Cys249Phe)

dbSNP: rs2115739143
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002036139 SCV002313164 uncertain significance Argininosuccinate lyase deficiency 2022-07-12 criteria provided, single submitter clinical testing 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 replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 249 of the ASL protein (p.Cys249Phe). ClinVar contains an entry for this variant (Variation ID: 1522608). 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. 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.

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