ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-13028_1965-13016dup

dbSNP: rs1751989521
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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 RCV001345294 SCV001539401 uncertain significance Pancreatic adenocarcinoma 2020-03-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser6Glufs*75) in the PALLD gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with PALLD-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PALLD cause disease. 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.

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