Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000163666 | SCV000214238 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-08 | 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. |
| Invitae | RCV001081720 | SCV000284588 | likely benign | PTEN hamartoma tumor syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000590378 | SCV000514310 | likely benign | not provided | 2019-09-16 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590378 | SCV000696533 | benign | not provided | 2017-01-10 | criteria provided, single submitter | clinical testing | Variant summary: The PTEN c.321T>C (p.Asp107Asp) variant involves the alteration of a 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 3/121362 control chromosomes at a frequency of 0.0000247, which is approximately 4 times the estimated maximal expected allele frequency of a pathogenic PTEN variant (0.0000063), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases 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. One LCA sample also carried pathogenic variants in BRCA2 c.1796_1800delCTTAT/p.S599X and c.4092_4093insAA/p.C1365fsX10, further supporting the benign classification of this variant. Taken together, this variant is classified as benign. |
| Color Diagnostics, |
RCV000163666 | SCV001355052 | likely benign | Hereditary cancer-predisposing syndrome | 2019-10-09 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000590378 | SCV001469638 | likely benign | not provided | 2019-10-08 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV000163666 | SCV002528238 | benign | Hereditary cancer-predisposing syndrome | 2021-06-29 | criteria provided, single submitter | curation |