ClinVar Miner

Submissions for variant NM_001166110.1(PALLD):c.640-?_960+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000196373 SCV000254735 uncertain significance Pancreatic adenocarcinoma 2015-01-06 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 4-5 of the PALLD gene. This deletion variant has not been published in the literature and is not present in population databases. The relationship between PALLD and cancer was ascertained from the study of only one large, multigenerational family affected with familial pancreatic cancer, for which evidence of linkage has been obtained and only one missense variant was detected (PMID: 17194196). However, an association study of 85 cases vs. 555 controls observed the mutation in 1 case and 1 control suggesting lack of association (PMID: 17415588). Further studies of 48 individuals with familial pancreatic cancer also did not support PALLD as a cause of this condition (PMID: 19336541). In summary, because there is limited evidence indicating a relationship between PALLD and cancer, any novel variants are considered uncertain significance.

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