ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.823G>A (p.Ala275Thr)

gnomAD frequency: 0.00003  dbSNP: rs137853212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000019392 SCV002132315 uncertain significance Deficiency of aromatic-L-amino-acid decarboxylase 2022-04-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 275 of the DDC protein (p.Ala275Thr). This variant is present in population databases (rs137853212, gnomAD 0.007%). This missense change has been observed in individual(s) with aromatic L-amino acid decarboxylase deficiency (PMID: 9789536, 30952622). ClinVar contains an entry for this variant (Variation ID: 17814). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects DDC function (PMID: 21541720). 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.
OMIM RCV000019392 SCV000039682 pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2022-08-11 no assertion criteria provided literature only

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