Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001372752 | SCV001569437 | uncertain significance | Pancreatic adenocarcinoma | 2014-06-17 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, MutationTaster, AlignGVGD) suggest that this sequence change is likely to be disruptive, but these predictions have not been confirmed by functional studies. This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population. |
Ambry Genetics | RCV004037541 | SCV005027057 | uncertain significance | not specified | 2023-12-14 | criteria provided, single submitter | clinical testing | The p.P938L variant (also known as c.2813C>T), located in coding exon 16 of the PALLD gene, results from a C to T substitution at nucleotide position 2813. The proline at codon 938 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |