ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.907G>A (p.Val303Met)

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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 RCV003068435 SCV003451234 uncertain significance Argininosuccinate lyase deficiency 2021-04-21 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 303 of the ASL protein (p.Val303Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs375562374, ExAC 0.01%). This variant has not been reported in the literature in individuals with ASL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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