ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.*185G>T

gnomAD frequency: 0.00001  dbSNP: rs1032243256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001345231 SCV001539337 uncertain significance Pancreatic adenocarcinoma 2020-10-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 667 of the PALLD protein (p.Val667Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant has not been reported in the literature in individuals 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").

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