ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.287T>C (p.Leu96Pro)

dbSNP: rs1483600747
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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 RCV001342693 SCV001536638 uncertain significance Argininosuccinate lyase deficiency 2020-01-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ASL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 96 of the ASL protein (p.Leu96Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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