Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000409726 | SCV000489781 | uncertain significance | Multiple endocrine neoplasia, type 2b | 2016-02-02 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000410787 | SCV000489782 | uncertain significance | Multiple endocrine neoplasia, type 2a | 2016-02-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000559400 | SCV000658459 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 959 of the RET protein (p.Arg959Trp). This variant is present in population databases (rs587778658, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 135180). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002433615 | SCV002751127 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-30 | criteria provided, single submitter | clinical testing | The p.R959W variant (also known as c.2875C>T), located in coding exon 17 of the RET gene, results from a C to T substitution at nucleotide position 2875. The arginine at codon 959 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects (Bodian DL et al. PLoS One, 2014 Apr;9:e94554). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| ITMI | RCV000121982 | SCV000086192 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |