Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001084609 | SCV000166015 | benign | Familial adenomatous polyposis 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000164173 | SCV000214791 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-24 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000318991 | SCV000451989 | likely benign | APC-Associated Polyposis Disorders | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000508123 | SCV000600044 | likely benign | not specified | 2016-11-15 | criteria provided, single submitter | clinical testing | |
| Color | RCV000164173 | SCV000681468 | benign | Hereditary cancer-predisposing syndrome | 2016-03-30 | criteria provided, single submitter | clinical testing | |
| Integrated Genetics/Laboratory Corporation of America | RCV000587584 | SCV000693998 | benign | not provided | 2017-06-09 | criteria provided, single submitter | clinical testing | Variant summary: The APC c.1488A>T (p.Thr496Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 55/121488 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.006028 (52/8626). This frequency is about 84 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000587584 | SCV000887507 | benign | not provided | 2018-03-11 | criteria provided, single submitter | clinical testing |