Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004243132 | SCV003857870 | uncertain significance | not specified | 2022-11-25 | criteria provided, single submitter | clinical testing | The p.H561N variant (also known as c.1681C>A), located in coding exon 9 of the PALLD gene, results from a C to A substitution at nucleotide position 1681. The histidine at codon 561 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. 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. |
| Neuberg Centre For Genomic Medicine, |
RCV005208203 | SCV005849132 | uncertain significance | Pancreatic cancer, susceptibility to, 1 | 2023-06-22 | criteria provided, single submitter | clinical testing | The missense variant c.1681C>A (p.His561Asn) in PALLD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn541Asp variant is present with allele frequency of 0.001% in gnomAD exomes database. This variant has been submitted to the ClinVar database as Uncertain Significance. Computational evidence (SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. The reference amino acid at this position on PALLD gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid His at position 561 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS). |