ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12777C>T

gnomAD frequency: 0.00004  dbSNP: rs864622140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206720 SCV000259431 uncertain significance Pancreatic adenocarcinoma 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 85 of the PALLD protein (p.Ser85Leu). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 219522). 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.
PreventionGenetics, part of Exact Sciences RCV003417739 SCV004115438 uncertain significance PALLD-related disorder 2023-05-03 criteria provided, single submitter clinical testing The PALLD c.254C>T variant is predicted to result in the amino acid substitution p.Ser85Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-169799296-C-T) and has been interpreted as variant of uncertain significance in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/219522/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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