ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)

gnomAD frequency: 0.00001  dbSNP: rs768964431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003766888 SCV003484709 uncertain significance Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2022-08-05 criteria provided, single submitter clinical testing 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. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 441102). This variant has not been reported in the literature in individuals affected with ALDH18A1-related conditions. This variant is present in population databases (rs768964431, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 648 of the ALDH18A1 protein (p.Pro648Ser).
GenomeConnect, ClinGen RCV000509302 SCV000607225 not provided ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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