ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12907G>A

gnomAD frequency: 0.00013  dbSNP: rs780516159
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197950 SCV000254730 uncertain significance Pancreatic adenocarcinoma 2023-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 42 of the PALLD protein (p.Ala42Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of PALLD-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 216534). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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