ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)

gnomAD frequency: 0.00004  dbSNP: rs1285477390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001250057 SCV003497592 likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2023-04-11 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with aromatic L-amino acid decarboxylase deficiency (PMID: 25956449, 28856607, 32369189). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects DDC function (PMID: 31953134). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DDC protein function. ClinVar contains an entry for this variant (Variation ID: 973440). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 96 of the DDC protein (p.Gly96Arg).
Elsea Laboratory, Baylor College of Medicine RCV001250057 SCV001424209 likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2020-04-01 no assertion criteria provided clinical testing

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