Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071270 | SCV001236564 | uncertain significance | Li-Fraumeni syndrome | 2021-08-19 | criteria provided, single submitter | clinical testing | This variant has been reported not to substantially affect TP53 protein function (PMID: 12826609, 30224644). This sequence change replaces leucine with phenylalanine at codon 43 of the TP53 protein (p.Leu43Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with breast cancer, as well as unaffected individual(s) (PMID: 30287823). ClinVar contains an entry for this variant (Variation ID: 864154). 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. |