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Amyloidosis, hereditary systemic 1

TTR · rs2144406508

Where this position leads

Drugs: Acoramidis (Attruby), Tafamidis (Vyndaqel, Vyndamax), Vutrisiran (Amvuttra)

Strength of the evidence

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 of 4 stars.

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 Likely pathogenic for Amyloidosis, hereditary systemic 1; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-01-28. ClinVar record 1490986 NM_000371.4(TTR):c.89G>A (p.Cys30Tyr)

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

A/A Two copies of the version ClinVar lists as likely disease-causing for Amyloidosis, hereditary systemic 1. 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. So far only one lab has made this call, so it may change. (ClinVar VCV001490986, criteria provided, single submitter)

A/G One copy of the version ClinVar lists as likely disease-causing for Amyloidosis, hereditary systemic 1. 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. So far only one lab has made this call, so it may change. (ClinVar VCV001490986, criteria provided, single submitter)

G/G No copy of the version ClinVar lists as likely disease-causing for Amyloidosis, hereditary systemic 1. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV001490986, criteria provided, single submitter)

Source: ClinVar VCV001490986, criteria provided, single submitter

Questions about rs2144406508

What is rs2144406508?

rs2144406508 is a single position in the genome, in or near the TTR gene. Published research associates it with amyloidosis, hereditary systemic 1. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs2144406508 affect how medicines work?

TTR carries pharmacogenomic findings for Acoramidis (Attruby), Tafamidis (Vyndaqel, Vyndamax), Vutrisiran (Amvuttra). That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs2144406508 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 rs2144406508 come from?

ClinVar VCV001490986, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Amyloidosis, hereditary systemic 1 (rs2144406508). MyGeneLog™. https://www.mygenelog.com/variants/rs2144406508

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