Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000199390 | SCV000255206 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 268 of the MEN1 protein (p.Tyr268Cys). This variant is present in population databases (rs773500082, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 216819). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MEN1 protein function with a positive predictive value of 95%. 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. |
Mendelics | RCV000199390 | SCV000838455 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001027095 | SCV001189600 | benign | Hereditary cancer-predisposing syndrome | 2023-07-24 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Institute of Human Genetics, |
RCV000199390 | SCV001428901 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000199390 | SCV002814027 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2022-05-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148675 | SCV003837362 | uncertain significance | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals suspected to have MEN1 (Romanet et al., 2019); This variant is associated with the following publications: (PMID: 12874027, 30869828, 34326862) |