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
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, 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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