Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cancer Genetics Laboratory, |
RCV000211083 | SCV000268005 | uncertain significance | Familial cancer of breast | 2015-06-01 | criteria provided, single submitter | case-control | |
Ambry Genetics | RCV003362729 | SCV004057634 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-10 | criteria provided, single submitter | clinical testing | The p.G644E variant (also known as c.1931G>A), located in coding exon 5 of the PALB2 gene, results from a G to A substitution at nucleotide position 1931. The glycine at codon 644 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |