Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001349856 | SCV001544217 | uncertain significance | Pancreatic adenocarcinoma | 2022-10-04 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1045446). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 87 of the PALLD protein (p.Ser87Pro). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Ambry Genetics | RCV004036598 | SCV003877636 | uncertain significance | not specified | 2023-01-10 | criteria provided, single submitter | clinical testing | The c.259T>C (p.S87P) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a T to C substitution at nucleotide position 259, causing the serine (S) at amino acid position 87 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |