Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000019392 | SCV002132315 | uncertain significance | Deficiency of aromatic-L-amino-acid decarboxylase | 2022-04-11 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 275 of the DDC protein (p.Ala275Thr). This variant is present in population databases (rs137853212, gnomAD 0.007%). This missense change has been observed in individual(s) with aromatic L-amino acid decarboxylase deficiency (PMID: 9789536, 30952622). ClinVar contains an entry for this variant (Variation ID: 17814). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects DDC function (PMID: 21541720). 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. |
| OMIM | RCV000019392 | SCV000039682 | pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase | 2022-08-11 | no assertion criteria provided | literature only |