Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002572537 | SCV002933036 | likely pathogenic | Multiple endocrine neoplasia, type 2 | 2023-05-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with familial medullary thyroid carcinoma (PMID: 1694442, 15844786, 16954442; Invitae). It has also been observed to segregate with disease in related individuals. This variant, c.1998delinsTTCT , is a complex sequence change that results in the deletion of 1 and insertion of 2 amino acid(s) in the RET protein (p.Lys666delinsAsnSer). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects RET function (PMID: 16954442). This variant is also known as c.2646delGinsTTCT or Lys666Asn, ins Ser. |
| Myriad Genetics, |
RCV004064341 | SCV004930779 | likely pathogenic | Multiple endocrine neoplasia type 2A | 2024-01-05 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 16954442]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 16954442, 15844786, 17639053, 27673361, 29408964, 20103606]. |