Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000417972 | SCV000529593 | uncertain significance | not provided | 2016-06-30 | criteria provided, single submitter | clinical testing | This variant is denoted SMAD4 c.954T>C at the DNA level. This variant is silent at the coding level, preserving a Proline at codon 318. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. SMAD4 c.954T>C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a thymine (T) at base 954, is conserved in mammals. Based on currently available information, it is unclear whether SMAD4 c.954T>C is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
Invitae | RCV001087625 | SCV000632814 | likely benign | Juvenile polyposis syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429418 | SCV001180844 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2018-09-29 | 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. |
Color Diagnostics, |
RCV001019481 | SCV001735024 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-02 | criteria provided, single submitter | clinical testing |