ClinVar Miner

Submissions for variant NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr)

gnomAD frequency: 0.00700  dbSNP: rs138353181
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224063 SCV000281113 benign not provided 2015-12-23 criteria provided, single submitter clinical testing
Invitae RCV000224063 SCV001101397 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000989307 SCV001139580 benign Thyroid dyshormonogenesis 6 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000989307 SCV001277902 likely benign Thyroid dyshormonogenesis 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Institute Rare Disease Group, Broad Institute RCV001258289 SCV001435216 likely benign Meckel syndrome, type 11 criteria provided, single submitter research The heterozygous p.Ala728Thr variant in DUOX2 has been identified in an individual with congenital hypothyroidism (PMID: 21565790), and has been identified in >1% of Latino chromosomes and 7 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the p.Ala728Thr variant may not impact protein function (PMID: 21565790). However, these types of assays may not accurately represent biological function. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive congenital hypothyroidism.
CeGaT Center for Human Genetics Tuebingen RCV000224063 SCV004129755 benign not provided 2023-11-01 criteria provided, single submitter clinical testing DUOX2: BP4, BS1, BS2

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