ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.782G>T (p.Cys261Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Institute of Mother and Child, Institute of Mother and Child RCV004595868 SCV005088571 likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2023-04-01 no assertion criteria provided clinical testing The c.782G>T( p.Cys261Phe) variant was scored was scored as likely pathogenic using the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP)/Association for Clinical Genomic Science (ACGS) recommendations as described previously by Himmelreich N et al, Mol.Genet.Metab. 2022. The variant was detected in a compound heterozygous state together with c.1060G>A (p.Gly354Ser) variant in DDC gene in a patient with clinical diagnosis of AADC deficiency (PMID: 37348148).

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