Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000122758 | SCV000166015 | benign | Familial adenomatous polyposis 1 | 2018-01-11 | 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 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
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 |