ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12764_1965-12763insTCCCCG

dbSNP: rs1201131054
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002006621 SCV002293133 uncertain significance Pancreatic adenocarcinoma 2021-01-21 criteria provided, single submitter clinical testing 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. This variant, c.267_268insTCCCCG, results in the insertion of 2 amino acid(s) to the PALLD protein (p.Pro89_Pro90insSerPro), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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