ClinVar Miner

Submissions for variant NM_001363711.2(DUOX2):c.3667del (p.His1223fs)

dbSNP: rs754179275
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779164 SCV000915681 likely pathogenic Thyroid dyshormonogenesis 6 2024-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873181 SCV002234810 pathogenic not provided 2024-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His1223Thrfs*18) in the DUOX2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DUOX2 are known to be pathogenic (PMID: 12110737, 18765513, 21565790, 24423310, 24735383). This variant is present in population databases (rs754179275, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with congenital hypothyroidism (PMID: 29650690). ClinVar contains an entry for this variant (Variation ID: 632237). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001873181 SCV003914974 likely pathogenic not provided 2022-10-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29650690, 34200080)
Fulgent Genetics, Fulgent Genetics RCV000779164 SCV005637788 likely pathogenic Thyroid dyshormonogenesis 6 2024-01-23 criteria provided, single submitter clinical testing

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