ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg)

dbSNP: rs201762741
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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 RCV000803103 SCV000942962 uncertain significance Hyperprolinemia type 2 2022-04-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 412 of the ALDH4A1 protein (p.Ser412Arg). This variant is present in population databases (rs201762741, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ALDH4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 648386). 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 C15"). 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.
GeneDx RCV002254944 SCV002526303 uncertain significance not provided 2021-12-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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