ClinVar Miner

Submissions for variant NM_001363711.2(DUOX2):c.790del (p.Leu264fs)

dbSNP: rs1894386318
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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 RCV002250981 SCV002521282 pathogenic Thyroid dyshormonogenesis 6 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with DUOX2 related disorder (PMID: 28666341). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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