ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.446G>C (p.Ser149Thr)

gnomAD frequency: 0.00002  dbSNP: rs971183744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000787964 SCV000926987 pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2018-12-03 criteria provided, single submitter clinical testing The activity of aromatic L-amino acid decarboxylase (AADC) in plasma was below reference range of CLIA laboratory. This demonstrated the patient has AADC deficiency
Invitae RCV000787964 SCV003439963 uncertain significance Deficiency of aromatic-L-amino-acid decarboxylase 2022-04-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 149 of the DDC protein (p.Ser149Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of aromatic L-amino acid decarboxylase deficiency (PMID: 25001633, 31607746, 32369189). ClinVar contains an entry for this variant (Variation ID: 636255). 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 C55"). 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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