ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.822C>T (p.Tyr274=)

gnomAD frequency: 0.00004  dbSNP: rs746729797
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001163811 SCV001325888 uncertain significance Deficiency of aromatic-L-amino-acid decarboxylase 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001163811 SCV001688153 likely benign Deficiency of aromatic-L-amino-acid decarboxylase 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003425969 SCV004162123 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing DDC: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003953551 SCV004772971 likely benign DDC-related disorder 2020-01-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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