ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12812C>A

gnomAD frequency: 0.00027  dbSNP: rs532961259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123169 SCV000166474 uncertain significance Pancreatic adenocarcinoma 2023-09-10 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 73 of the PALLD protein (p.Phe73Leu). This variant is present in population databases (rs532961259, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. 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: 136003). 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.
Ambry Genetics RCV004019708 SCV003877652 uncertain significance not specified 2023-02-09 criteria provided, single submitter clinical testing The c.219C>A (p.F73L) alteration is located in exon 2 (coding exon 1) of the PALLD gene. This alteration results from a C to A substitution at nucleotide position 219, causing the phenylalanine (F) at amino acid position 73 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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