Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037653 | SCV000061315 | uncertain significance | not specified | 2012-12-12 | criteria provided, single submitter | clinical testing | The Ile221Leu variant in the PTPN11 gene has not been reported in the literature nor previously identified by our laboratory. In addition, this variant has not been identified in large and broad populations by NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, additional info rmation is needed to fully assess the clinical significance of the Ile221Leu var iant. |