ClinVar Miner

Submissions for variant NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs)

dbSNP: rs1566978577
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781340 SCV000919303 likely pathogenic Thyroid dyshormonogenesis 6 2018-06-15 criteria provided, single submitter clinical testing Variant summary: DUOX2 c.345_352delCGTGGTGA (p.Asp115GlufsX183) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as disease causing in HGMD (eg. c.377_379delCCG, c.477delC, c.596delC). The variant was absent in 244768 control chromosomes (gnomAD). To our knowledge, no occurrence of c.345_352delCGTGGTGA in individuals affected with Thyroid dyshormonogenesis 6 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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