ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.928C>T (p.Leu310Phe)

dbSNP: rs1168345442
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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 RCV001037258 SCV001200662 uncertain significance Argininosuccinate lyase deficiency 2019-01-22 criteria provided, single submitter clinical testing 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. This sequence change replaces leucine with phenylalanine at codon 310 of the ASL protein (p.Leu310Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Natera, Inc. RCV001037258 SCV002076032 uncertain significance Argininosuccinate lyase deficiency 2021-07-12 no assertion criteria provided clinical testing

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