Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088063 | SCV000632793 | likely benign | Juvenile polyposis syndrome | 2023-07-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756669 | SCV000884552 | likely benign | not provided | 2018-03-22 | criteria provided, single submitter | clinical testing | The SMAD4 c.525A>G; p.Glu175Glu variant (rs368528856) is not reported in the medical literature or in gene-specific databases. The variant is listed as likely benign in the ClinVar database (Variation ID: 460556). This variant is found in the African population with an overall allele frequency of 0.2% (3/15304 alleles) in the Genome Aggregation Database. This is a synonymous change, the nucleotide is not conserved, and computational algorithms do not predict a significant change to splicing (Alamut v.2.11). Considering available information, this variant is classified as likely benign. |
Ambry Genetics | RCV002319040 | SCV001185733 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2018-09-05 | 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. |
Prevention |
RCV003960284 | SCV004770843 | likely benign | SMAD4-related condition | 2022-10-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |