Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000582476 | SCV000691694 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-03 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000608773 | SCV000712827 | uncertain significance | not specified | 2017-02-06 | criteria provided, single submitter | clinical testing | The p.Ser345Leu variant in TP53 has not been previously reported as a germline v ariant in individuals with Li-Fraumeni syndrome. Data from large population stud ies is insufficient to assess the frequency of this variant. Computational predi ction tools and conservation analysis do not provide strong support for or again st an impact to the protein. Of note, this variant is in the coding region of tr anscript NM_001126113.2, but not in other TP53 transcripts. In summary, the clin ical significance of the p.Ser345Leu variant is uncertain. |