Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clingen PTEN Variant Curation Expert Panel, |
RCV000709132 | SCV002576561 | likely benign | PTEN hamartoma tumor syndrome | 2021-06-04 | reviewed by expert panel | curation | PTEN c.577C>T (p.Leu193=) meets criteria to be classified as likely benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). PM2: Present at extremely low (<0.00001, 0.001%) allele frequency in the gnomAD cohort. (PMID 27535533). BP4: Synonymous variant where at least 2 out of 3 in silico models predict no splicing impact. BP7: Variant is synonymous (silent) and no splicing impact is predicted. |
Ambry Genetics | RCV000573509 | SCV000665357 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-27 | 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. |
Color Diagnostics, |
RCV000573509 | SCV000691174 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000606667 | SCV000728955 | likely benign | not specified | 2017-02-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Mendelics | RCV000709132 | SCV000838419 | benign | PTEN hamartoma tumor syndrome | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000709132 | SCV003468381 | likely benign | PTEN hamartoma tumor syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing |