ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu)

gnomAD frequency: 0.00001  dbSNP: rs762708368
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527874 SCV000649754 uncertain significance Hyperprolinemia type 2 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 480 of the ALDH4A1 protein (p.Gly480Glu). This variant is present in population databases (rs762708368, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of ALDH4A1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 471328). 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. 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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