ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2264C>A (p.Ser755Tyr)

dbSNP: rs1755762387
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327339 SCV001518408 uncertain significance Pancreatic adenocarcinoma 2020-08-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 C65"). This variant has not been reported in the literature in individuals with PALLD-related conditions. This sequence change replaces serine with tyrosine at codon 251 of the PALLD protein (p.Ser251Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine.

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