ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.467C>T (p.Pro156Leu)

gnomAD frequency: 0.00001  dbSNP: rs769017508
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239790 SCV001412689 pathogenic Argininosuccinate lyase deficiency 2024-10-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 156 of the ASL protein (p.Pro156Leu). This variant is present in population databases (rs769017508, gnomAD 0.006%). This missense change has been observed in individual(s) with argininosuccinate lyase deficiency (PMID: 29773863, 31030429). ClinVar contains an entry for this variant (Variation ID: 198384). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ASL protein function with a positive predictive value of 95%. This variant disrupts the p.Pro156 amino acid residue in ASL. Other variant(s) that disrupt this residue have been observed in individuals with ASL-related conditions (PMID: 24166829), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001239790 SCV004200589 pathogenic Argininosuccinate lyase deficiency 2024-03-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000179702 SCV000231993 uncertain significance not provided 2017-10-27 flagged submission clinical testing
Natera, Inc. RCV001239790 SCV002076006 likely pathogenic Argininosuccinate lyase deficiency 2021-02-16 no assertion criteria provided clinical testing

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