ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly)

gnomAD frequency: 0.00016  dbSNP: rs200450773
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001443515 SCV001646488 likely benign Deficiency of aromatic-L-amino-acid decarboxylase 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002559306 SCV003552755 likely benign Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003920954 SCV004736518 likely benign DDC-related disorder 2019-05-06 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).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001527605 SCV001738715 uncertain significance Global developmental delay 2020-01-01 no assertion criteria provided clinical testing

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