ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.532+8G>C

gnomAD frequency: 0.00116  dbSNP: rs146617205
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727637 SCV000854920 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727637 SCV001066952 benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586903 SCV005075795 likely benign not specified 2024-04-03 criteria provided, single submitter clinical testing Variant summary: THRB c.532+8G>C alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00028 in 251144 control chromosomes, predominantly at a frequency of 0.004 within the African or African-American subpopulation in the gnomAD database, suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.532+8G>C 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: 592487). Based on the evidence outlined above, the variant was classified as likely benign.

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