Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001159940 | SCV001321693 | 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. |
| Gene |
RCV001751292 | SCV002006106 | uncertain significance | not provided | 2021-02-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Fulgent Genetics, |
RCV002491464 | SCV002778140 | uncertain significance | Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 | 2022-01-18 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001159940 | SCV003836327 | uncertain significance | Iodotyrosyl coupling defect | 2022-03-07 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005056962 | SCV005725800 | uncertain significance | not specified | 2024-11-25 | criteria provided, single submitter | clinical testing | Variant summary: TG c.848G>A (p.Arg283Gln) results in a conservative amino acid change located in the Thyroglobulin type-1 domain profile domain (IPR000716) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0014 in 1614082 control chromosomes in the gnomAD database, including 2 homozygotes. Although this frequency is not significantly higher than estimated for a pathogenic variant in TG causing TG-Related Disorders, these data provide evidence the variant may be benign. To our knowledge, no occurrence of c.848G>A in individuals affected with TG-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 909061). Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |