The Claim
The DIO1 p.Asn94Lys and p.Met201Ile variants are classified as pathogenic according to ACMG criteria, supported by functional evidence from in vitro assays, absence in population databases, and co-segregation with abnormal thyroid hormone profiles in affected family members.
What the research says
Supports is higher
Support is ahead, but a single strong opposing study can change this.
These are independent scores, not a percentage. Higher-grade studies count more, so a single strong opposing study can outweigh several weaker ones.
Two specific changes in the DIO1 gene are classified as disease-causing because they are not found in healthy populations, disrupt thyroid hormone function in laboratory tests, and consistently appear in family members with abnormal thyroid hormone levels.
See the scientific wording
The DIO1 p.Asn94Lys and p.Met201Ile variants are classified as pathogenic based on ACMG criteria, including functional evidence from in vitro assays, absence in population databases, and co-segregation with abnormal thyroid hormone profiles in affected family members.
Mutations in the DIO1 gene change the shape of an enzyme that normally converts thyroid hormones, making it less able to bind its targets. This causes the body to build up an inactive form of thyroid hormone (reverse T3) and produce less of the active form (T3), which disrupts normal metabolic signaling.
What the research says
1 studyStudy: Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism
This study found that two rare changes in the DIO1 gene break how the body processes thyroid hormones, and they only appear in family members who have the same hormone problems — proving these gene changes cause disease.
Score breakdown, mechanism chain, raw evidence, ideal studies needed & 1 supporting studies
Not medical advice. For informational purposes only. Always consult a qualified healthcare professional before making health decisions.