Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001858877 | SCV002312218 | uncertain significance | Pancreatic adenocarcinoma | 2023-05-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 809704). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs781065277, gnomAD 0.005%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 614 of the PALLD protein (p.Val614Ile). 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. 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 | RCV004837783 | SCV005463963 | uncertain significance | not specified | 2024-12-03 | criteria provided, single submitter | clinical testing | The c.1840G>A (p.V614I) alteration is located in exon 11 (coding exon 10) of the PALLD gene. This alteration results from a G to A substitution at nucleotide position 1840, causing the valine (V) at amino acid position 614 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |