Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001161912 | SCV001323827 | uncertain significance | Iodotyrosyl coupling defect | 2017-09-21 | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Gene |
RCV001593300 | SCV001815297 | uncertain significance | not provided | 2023-01-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 23164529) |
| Genomic Medicine Center of Excellence, |
RCV001161912 | SCV004808108 | uncertain significance | Iodotyrosyl coupling defect | 2024-03-29 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526810 | SCV005039713 | uncertain significance | not specified | 2024-03-19 | criteria provided, single submitter | clinical testing | Variant summary: TG c.6605C>G (p.Pro2202Arg) results in a non-conservative amino acid change located in the Carboxylesterase, type B domain (IPR002018) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00041 in 251358 control chromosomes (gnomAD). c.6605C>G (also known as p.P2183R) has been reported in the literature in at-least one individuals affected with TG-Related Disorder (example: Citterio_2013). This report does not provide unequivocal conclusions about association of the variant with TG-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 23164529). ClinVar contains an entry for this variant (Variation ID: 910240). Based on the evidence outlined above, the variant was classified as uncertain significance. |