ClinVar Miner

Submissions for variant NM_003235.5(TG):c.4982G>A (p.Arg1661His)

gnomAD frequency: 0.00012  dbSNP: rs115509019
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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 RCV000279090 SCV000472057 uncertain significance Iodotyrosyl coupling defect 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV002480249 SCV002792720 uncertain significance Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2021-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004555562 SCV004113472 uncertain significance TG-related disorder 2022-10-14 criteria provided, single submitter clinical testing The TG c.4982G>A variant is predicted to result in the amino acid substitution p.Arg1661His. This variant was reported in an individual with congenital hypothyroidism together with a nonsense variant in DUOX2 gene (Table S1, Wang et al. 2020. PubMed ID: 32425884). This variant is reported in 0.11% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-133948050-G-A). 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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