ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.976C>A (p.Gln326Lys)

gnomAD frequency: 0.00001  dbSNP: rs398123129
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078018 SCV000109856 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001342759 SCV001536706 uncertain significance Argininosuccinate lyase deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 326 of the ASL protein (p.Gln326Lys). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ASL-related conditions. ClinVar contains an entry for this variant (Variation ID: 92367). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). This variant disrupts the p.Gln326 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. 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.
Revvity Omics, Revvity RCV001342759 SCV003825105 uncertain significance Argininosuccinate lyase deficiency 2022-04-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586540 SCV005075948 uncertain significance not specified 2024-04-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001342759 SCV002076035 uncertain significance Argininosuccinate lyase deficiency 2021-01-06 no assertion criteria provided clinical testing

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