ClinVar Miner

Submissions for variant NM_001206744.2(TPO):c.920A>C (p.Asn307Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003152999 SCV003841660 uncertain significance Deficiency of iodide peroxidase 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest no damaging effect of the variant on gene or gene product (REVEL: 0.31; 3Cnet: 0.09). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with TPO related disorder (PMID: 12938097). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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