ClinVar Miner

Submissions for variant NM_001363711.2(DUOX2):c.2997del (p.Phe999fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003821886 SCV004627424 pathogenic not provided 2023-07-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DUOX2-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs774830832, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Phe999Leufs*26) 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).
GeneDx RCV003821886 SCV005331961 uncertain significance not provided 2024-03-23 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; Has not been previously published as pathogenic or benign to our knowledge

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