Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164596 | SCV000215255 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Invitae | RCV000229726 | SCV000285065 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2019-12-23 | criteria provided, single submitter | clinical testing | This sequence change affects codon 448 of the PMS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PMS2 protein. This variant is present in population databases (rs759192470, ExAC 0.001%) but has not been reported in the literature in individuals with a PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 185217). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. |
Gene |
RCV000442013 | SCV000517396 | likely benign | not specified | 2016-12-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color | RCV000164596 | SCV000911287 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-07 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000442013 | SCV000920043 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000998766 | SCV001155032 | uncertain significance | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing |