ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) (rs142110773)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab, Policlinico S. Orsola.Malpighi RCV000677176 SCV000788355 likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2018-07-30 criteria provided, single submitter clinical testing This variant is extremely rare (only one allele in ExAC). The affected arginine is completely conserved across 98 vertebrates and the observed missense substitution was evaluated as deleterious by different prediction programs (Polyphen2, SIFT and MutationTaster). The variant was found in a homozygous state in three patients of one single family. Patients showed a phenotype that was compatible with AADC deficiency and abnormalities of neurotransmitters and their metabolites in one patient's CSF supported pathogenicity.

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