ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071807 SCV001237129 uncertain significance Deficiency of pyrroline-5-carboxylate reductase 2019-03-22 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 20 of the ALDH4A1 protein (p.Ala20Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ALDH4A1-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. 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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