ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.698C>G (p.Thr233Ser)

dbSNP: rs1229119110
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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 RCV002005683 SCV002273793 uncertain significance Argininosuccinate lyase deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 233 of the ASL protein (p.Thr233Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. 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. 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. 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.

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