ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.213C>A (p.Asp71Glu)

gnomAD frequency: 0.00016  dbSNP: rs141495471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375892 SCV000442793 likely benign Thyroid hormone resistance, generalized, autosomal dominant 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800658 SCV000602253 uncertain significance not provided 2020-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003422331 SCV004116673 uncertain significance THRB-related disorder 2023-09-29 criteria provided, single submitter clinical testing The THRB c.213C>A variant is predicted to result in the amino acid substitution p.Asp71Glu. To our knowledge, this variant has not been reported in the literature in association with a disease phenotype. It has been reported in ClinVar as uncertain and likely benign (Table 2, Concolino et al. 2019. PubMed ID: 30976996; https://www.ncbi.nlm.nih.gov/clinvar/variation/344637/). This variant is reported in 0.090% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-24231635-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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