ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)

gnomAD frequency: 0.00002  dbSNP: rs746244631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001250058 SCV002205156 pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2024-09-25 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs746244631, gnomAD 0.009%). This missense change has been observed in individual(s) with aromatic L-amino acid decarboxylase deficiency (PMID: 25001633, 32369189). ClinVar contains an entry for this variant (Variation ID: 973441). 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) indicates that this missense variant is expected to disrupt DDC protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Elsea Laboratory, Baylor College of Medicine RCV001250058 SCV001424210 likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2020-04-01 no assertion criteria provided clinical testing

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