Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649767 | SCV000771599 | uncertain significance | BAP1-related tumor predisposition syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 537 of the BAP1 protein (p.Ser537Gly). This variant is present in population databases (rs747109385, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with BAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 539898). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Color Diagnostics, |
RCV000771524 | SCV000904060 | likely benign | Hereditary cancer-predisposing syndrome | 2020-05-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001592812 | SCV001815028 | uncertain significance | not provided | 2023-01-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV000771524 | SCV002703105 | benign | Hereditary cancer-predisposing syndrome | 2023-08-08 | 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. |
Baylor Genetics | RCV000649767 | SCV004214888 | uncertain significance | BAP1-related tumor predisposition syndrome | 2023-06-22 | criteria provided, single submitter | clinical testing |