ClinVar Miner

Submissions for variant NM_000790.4(DDC):c.316del

dbSNP: rs1364054304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001893818 SCV002171844 pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2023-08-30 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1399541). This variant has not been reported in the literature in individuals affected with DDC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala106Argfs*12) in the DDC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DDC are known to be pathogenic (PMID: 15079002, 24788355).
Fulgent Genetics, Fulgent Genetics RCV001893818 SCV002811717 likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase 2022-03-08 criteria provided, single submitter clinical testing

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