Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001359033 | SCV001554893 | uncertain significance | Pancreatic adenocarcinoma | 2023-05-13 | criteria provided, single submitter | clinical testing | 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: 1051047). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. 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. This variant is present in population databases (rs569054006, gnomAD 0.005%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 616 of the PALLD protein (p.Thr616Asn). |