ClinVar Miner

Submissions for variant NM_001363711.2(DUOX2):c.1717C>T (p.Gln573Ter)

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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 RCV003079189 SCV003461725 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln573*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with congenital hypothyroidism (PMID: 30022773). ClinVar contains an entry for this variant (Variation ID: 2152229). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003079189 SCV005327218 uncertain significance not provided 2023-10-23 criteria provided, single submitter clinical testing Reported in an individual with congenital hypothyroidism in published literature (PMID: 30022773); 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: 30022773, 34200080, Chen[article]2020)

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