ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.239A>G (p.Tyr80Cys)

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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 RCV002837591 SCV003206464 uncertain significance Hyperprolinemia type 2 2023-05-15 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. ClinVar contains an entry for this variant (Variation ID: 2006046). This variant has not been reported in the literature in individuals affected with ALDH4A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 80 of the ALDH4A1 protein (p.Tyr80Cys).

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