Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001250058 | SCV002205156 | pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase | 2022-11-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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) performed at Invitae indicates that this missense variant is expected to disrupt DDC protein function. ClinVar contains an entry for this variant (Variation ID: 973441). This missense change has been observed in individual(s) with aromatic L-amino acid decarboxylase deficiency (PMID: 25001633, 32369189). This variant is present in population databases (rs746244631, gnomAD 0.009%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 87 of the DDC protein (p.Pro87Leu). |
Elsea Laboratory, |
RCV001250058 | SCV001424210 | likely pathogenic | Deficiency of aromatic-L-amino-acid decarboxylase | 2020-04-01 | no assertion criteria provided | clinical testing |