Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032539 | SCV001195846 | uncertain significance | PTEN hamartoma tumor syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant occurs in a non-coding region of the PTEN gene. It does not change the encoded amino acid sequence of the PTEN protein. This variant has not been reported in the literature in individuals affected with PTEN-related conditions. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that a similar copy number variant affects PTEN function (PMID: 11906179, 12844284, 16052674). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |