ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His)

gnomAD frequency: 0.00001  dbSNP: rs754880517
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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 RCV003768980 SCV001235603 uncertain significance Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2024-07-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 55 of the ALDH18A1 protein (p.Arg55His). This variant is present in population databases (rs754880517, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALDH18A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 863417). 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 tolerated. 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.
Revvity Omics, Revvity RCV003142028 SCV003823130 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing

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