ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.923A>T (p.Asn308Ile)

gnomAD frequency: 0.00001  dbSNP: rs375716771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688326 SCV000815932 uncertain significance Deficiency of aromatic-L-amino-acid decarboxylase 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 308 of the DDC protein (p.Asn308Ile). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 568083). 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 with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002298740 SCV002588132 uncertain significance not provided 2022-10-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Mendelics RCV000688326 SCV003936891 likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2023-07-06 criteria provided, single submitter clinical testing

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