ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.206C>T (p.Thr69Met)

gnomAD frequency: 0.00002  dbSNP: rs777956037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366716 SCV001563029 pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 69 of the DDC protein (p.Thr69Met). This variant is present in population databases (rs777956037, gnomAD 0.01%). This missense change has been observed in individual(s) with aromatic L-amino acid decarboxylase deficiency (PMID: 20505134, 31849064). ClinVar contains an entry for this variant (Variation ID: 1057684). 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%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on DDC function (PMID: 24865461). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001366716 SCV003834299 uncertain significance Deficiency of aromatic-L-amino-acid decarboxylase 2019-12-16 criteria provided, single submitter clinical testing

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