Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002430880 | SCV002741774 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-29 | criteria provided, single submitter | clinical testing | The p.L830V variant (also known as c.2488C>G), located in coding exon 13 of the PALLD gene, results from a C to G substitution at nucleotide position 2488. The leucine at codon 830 is replaced by valine, an amino acid with highly 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. |
| Ambry Genetics | RCV003101876 | SCV003565907 | uncertain significance | Inborn genetic diseases | 2021-08-12 | criteria provided, single submitter | clinical testing | The c.1027C>G (p.L343V) alteration is located in exon 6 (coding exon 5) of the PALLD gene. This alteration results from a C to G substitution at nucleotide position 1027, causing the leucine (L) at amino acid position 343 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003775268 | SCV004678507 | uncertain significance | Pancreatic adenocarcinoma | 2023-09-03 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs544491953, gnomAD 0.02%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1792012). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 343 of the PALLD protein (p.Leu343Val). |