Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490414 | SCV000267296 | likely pathogenic | Thyroid dyshormonogenesis 6 | 2016-03-18 | criteria provided, single submitter | reference population | |
Illumina Laboratory Services, |
RCV000490414 | SCV000914682 | uncertain significance | Thyroid dyshormonogenesis 6 | 2018-11-08 | criteria provided, single submitter | clinical testing | The DUOX2 c.2653C>T (p.Arg885Ter) variant is a stop-gained variant that is predicted to result in a premature termination/elongation of the protein. A literature search was performed for the gene, cDNA change, and amino acid. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. This variant is reported at a frequency of 0.000174 in the East Asian population from the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital hypothyroidism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Invitae | RCV001853383 | SCV002235766 | pathogenic | not provided | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg885*) 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 (rs199589510, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with congenital hypothyroidism (PMID: 33631011). ClinVar contains an entry for this variant (Variation ID: 225343). For these reasons, this variant has been classified as Pathogenic. |