ClinVar Miner

Submissions for variant NM_003235.5(TG):c.925A>G (p.Thr309Ala)

gnomAD frequency: 0.00002  dbSNP: rs199712883
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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 RCV001159941 SCV001321694 uncertain significance Iodotyrosyl coupling defect 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002480566 SCV002783397 uncertain significance Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2022-02-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004555617 SCV004727214 uncertain significance TG-related disorder 2023-10-18 no assertion criteria provided clinical testing The TG c.925A>G variant is predicted to result in the amino acid substitution p.Thr309Ala. This variant was reported in a study of individuals with Hypothyroidism (de Filippis et al. 2017. PubMed ID: 28444304). This variant is reported in 0.098% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-133895094-A-G). Although we suspect that this variant may be benign, 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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