ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.679_696dup (p.Glu227_Thr232dup)

dbSNP: rs1553616532
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Total submissions: 2
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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 RCV004689802 SCV005185913 uncertain significance not specified 2024-05-03 criteria provided, single submitter clinical testing Variant summary: THRB c.679_696dup18 (p.Glu227_Thr232dup) results in an in-frame duplication that is predicted to duplicate 6 amino acids into the encoded protein. The variant was absent in 251040 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.679_696dup18 in individuals affected with Thyroid Hormone Resistance, Generalized, Autosomal Dominant and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 492909). Based on the evidence outlined above, the variant was classified as uncertain significance.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000582505 SCV000692405 uncertain significance Thyroid hormone resistance, generalized, autosomal dominant 2012-02-21 no assertion criteria provided clinical testing

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