ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1020T>G (p.Ser340Arg)

gnomAD frequency: 0.00001  dbSNP: rs771476376
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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 RCV001294782 SCV001483676 uncertain significance Argininosuccinate lyase deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 340 of the ASL protein (p.Ser340Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs771476376, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with ASL-related conditions. 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 tolerated. 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. RCV001294782 SCV002076036 uncertain significance Argininosuccinate lyase deficiency 2020-03-10 no assertion criteria provided clinical testing

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