ClinVar Miner

Submissions for variant NM_001363711.2(DUOX2):c.1606C>T (p.Arg536Ter)

gnomAD frequency: 0.00001  dbSNP: rs368967911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920812 SCV002191002 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg536*) 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 (rs368967911, gnomAD 0.004%). 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: 1414720). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001920812 SCV004168283 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing Nonsense 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, 34539567, 33124651, 33145277)
Fulgent Genetics, Fulgent Genetics RCV005002665 SCV005630737 pathogenic Thyroid dyshormonogenesis 6 2024-05-02 criteria provided, single submitter clinical testing

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