ClinVar Miner

Submissions for variant NM_003235.5(TG):c.7021G>A (p.Gly2341Ser)

gnomAD frequency: 0.00001  dbSNP: rs898275076
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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 RCV003323659 SCV004029494 likely pathogenic TG-related disorder 2023-07-27 criteria provided, single submitter clinical testing Variant summary: TG c.7021G>A (p.Gly2341Ser) results in a non-conservative amino acid change located in the Type B Carboxylesterase domain (IPR002018) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251476 control chromosomes. c.7021G>A has been reported in the literature at a homozygous state in two siblings affected with Congenital hypothyroidism and the variant segregated with disease in that family (example: Watanabe_2018, Bruellman_2020). These data indicate that the variant is likely to be associated with TG-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 31867598, 29720101). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Weiss Lab, University of Miami RCV000656568 SCV000778562 pathogenic Iodotyrosyl coupling defect 2016-09-19 no assertion criteria provided clinical testing

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