Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000234755 | SCV000290556 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2025-01-28 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1002 of the RET protein (p.Ser1002Asn). This variant is present in population databases (rs763489828, gnomAD 0.005%). 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: 241355). 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. |
| Athena Diagnostics | RCV000992303 | SCV001144500 | uncertain significance | not provided | 2019-01-25 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001018013 | SCV001179189 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-28 | 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. |
| Gene |
RCV000992303 | SCV002000655 | uncertain significance | not provided | 2024-03-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Identified in an individual with breast cancer (PMID: 29684080); This variant is associated with the following publications: (PMID: 36936415, 29641532, 29684080, 14633923) |
| Fulgent Genetics, |
RCV002500811 | SCV002812655 | uncertain significance | Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A | 2022-03-03 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003463678 | SCV004208642 | uncertain significance | Hirschsprung disease, susceptibility to, 1 | 2023-12-21 | criteria provided, single submitter | clinical testing |