ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.361T>C (p.Trp121Arg)

gnomAD frequency: 0.00001  dbSNP: rs371117662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002035629 SCV002286078 uncertain significance Deficiency of aromatic-L-amino-acid decarboxylase 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 121 of the DDC protein (p.Trp121Arg). This variant is present in population databases (rs371117662, gnomAD 0.0009%). 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: 1498769). 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. 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.
Mendelics RCV002035629 SCV002516303 likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2022-05-04 criteria provided, single submitter clinical testing

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