Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017444 | SCV001178527 | likely benign | Hereditary cancer-predisposing syndrome | 2023-01-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Labcorp Genetics |
RCV001062743 | SCV001227561 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2024-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 381 of the RET protein (p.Phe381Leu). This variant is present in population databases (rs781362020, gnomAD 0.03%). This missense change has been observed in individual(s) with osteosarcoma (PMID: 32179705). ClinVar contains an entry for this variant (Variation ID: 822241). 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. |
Revvity Omics, |
RCV003132142 | SCV003816115 | uncertain significance | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular and Cytogenetics, |
RCV003328101 | SCV004035057 | uncertain significance | Multiple endocrine neoplasia type 2A | 2023-06-10 | criteria provided, single submitter | clinical testing |