ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln)

gnomAD frequency: 0.00010  dbSNP: rs201691969
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522250 SCV000622043 uncertain significance not provided 2024-03-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV003766977 SCV001385601 uncertain significance Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 197 of the ALDH18A1 protein (p.Glu197Gln). This variant is present in population databases (rs201691969, gnomAD 0.03%). 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: 453170). Invitae Evidence 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 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.
Ambry Genetics RCV002525256 SCV003678084 uncertain significance Inborn genetic diseases 2022-12-13 criteria provided, single submitter clinical testing The c.589G>C (p.E197Q) alteration is located in exon 6 (coding exon 5) of the ALDH18A1 gene. This alteration results from a G to C substitution at nucleotide position 589, causing the glutamic acid (E) at amino acid position 197 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000522250 SCV005412183 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing BP4

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