Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001190271 | SCV001357728 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002235669 | SCV001659326 | likely benign | Familial adenomatous polyposis 1 | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001190271 | SCV003895447 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-29 | 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. |
Department of Pathology and Laboratory Medicine, |
RCV001356626 | SCV001551846 | uncertain significance | Familial adenomatous polyposis 1 | no assertion criteria provided | clinical testing | The APC p.Asp1832= variant was not identified in the literature nor was it identified in dbSNP, ClinVar, GeneInsight-COGR, Cosmic, MutDB, LOVD 3.0, UMD-LSDB, and the Zhejiang Colon Cancer Database. The variant was identified in control databases in 1 of 245644 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017), in European Non-Finnish population in 1 of 111186 chromosomes (freq: 0.000009), while not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, European Finnish, and South Asian populations. The p.Asp1832= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |