ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)

dbSNP: rs762271422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626090 SCV000746715 likely pathogenic Hereditary spastic paraplegia 5A 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV003767836 SCV001410857 uncertain significance Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2023-02-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 744 of the ALDH18A1 protein (p.Ser744Trp). This variant is present in population databases (rs762271422, gnomAD 0.04%). 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: 522897). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ALDH18A1 protein function. 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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