ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.338G>A (p.Arg113Gln)

gnomAD frequency: 0.00001  dbSNP: rs371321697
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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 RCV001303299 SCV001492540 uncertain significance Hyperprolinemia type 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 113 of the ALDH4A1 protein (p.Arg113Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs371321697, ExAC 0.03%). This variant has not been reported in the literature in individuals affected 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252134 SCV001427884 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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