Standard

Deficiency of aromatic-L-amino-acid decarboxylase

DDC · rs779659084

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Uncertain significance for Deficiency of aromatic-L-amino-acid decarboxylase; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-03-30. ClinVar record 2183690 NM_001082971.2(DDC):c.571-3C>T

Classification Likely pathogenic for Deficiency of aromatic-L-amino-acid decarboxylase; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2019-09-26. ClinVar record 800953 NM_001082971.2(DDC):c.571-3C>G

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

C/C Two copies of the version ClinVar lists as likely disease-causing for Deficiency of aromatic-L-amino-acid decarboxylase. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000800953, no assertion criteria provided)
C/G One copy of the version ClinVar lists as likely disease-causing for Deficiency of aromatic-L-amino-acid decarboxylase. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000800953, no assertion criteria provided)
G/G No copy of the version ClinVar lists as likely disease-causing for Deficiency of aromatic-L-amino-acid decarboxylase. This is the usual result. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000800953, no assertion criteria provided)

Source: ClinVar VCV000800953, no assertion criteria provided

Questions about rs779659084

What is rs779659084?

rs779659084 is a single position in the genome, in or near the DDC gene. Published research associates it with deficiency of aromatic-l-amino-acid decarboxylase. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs779659084 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs779659084 come from?

ClinVar VCV000800953, no assertion criteria provided. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Deficiency of aromatic-L-amino-acid decarboxylase (rs779659084). MyGeneLog™. https://www.mygenelog.com/variants/rs779659084

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