ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12802_1965-12797del

dbSNP: rs1264657310
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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 RCV001920469 SCV002184346 uncertain significance Pancreatic adenocarcinoma 2022-10-17 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.229_234del, results in the deletion of 2 amino acid(s) of the PALLD protein (p.Pro77_Glu78del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1411109). 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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