ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.326C>T (p.Thr109Met)

gnomAD frequency: 0.00002  dbSNP: rs146123574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815132 SCV000955578 uncertain significance Argininosuccinate lyase deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 109 of the ASL protein (p.Thr109Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs146123574, ExAC 0.05%). 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: 658327). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Natera, Inc. RCV000815132 SCV002075997 uncertain significance Argininosuccinate lyase deficiency 2021-01-05 no assertion criteria provided clinical testing

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