Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000166366 | SCV000217155 | likely benign | Hereditary cancer-predisposing syndrome | 2014-11-06 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000412160 | SCV000488395 | likely benign | Familial adenomatous polyposis 1 | 2016-03-18 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000412160 | SCV000562673 | likely benign | Familial adenomatous polyposis 1 | 2017-07-19 | criteria provided, single submitter | clinical testing | |
| Color | RCV000166366 | SCV000681664 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-02 | criteria provided, single submitter | clinical testing | |
| Integrated Genetics/Laboratory Corporation of America | RCV000588465 | SCV000694053 | uncertain significance | not provided | 2016-09-26 | criteria provided, single submitter | clinical testing | Variant summary: The APC c.4416A>T (p.Val1472Val) 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. 4/5 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 2/121348 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714). In addition, one other clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign. |