ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.715A>T (p.Met239Leu)

gnomAD frequency: 0.00069  dbSNP: rs11575376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974672 SCV001122507 likely benign Deficiency of aromatic-L-amino-acid decarboxylase 2024-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000974672 SCV001320565 uncertain significance Deficiency of aromatic-L-amino-acid decarboxylase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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