ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12771C>T

dbSNP: rs1560839872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701385 SCV000830185 uncertain significance Pancreatic adenocarcinoma 2019-12-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 has not been reported in the literature in individuals with PALLD-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces serine with leucine at codon 87 of the PALLD protein (p.Ser87Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine.

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