ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2801C>T (p.Pro934Leu)

gnomAD frequency: 0.00002  dbSNP: rs756934356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048556 SCV001212569 uncertain significance Pancreatic adenocarcinoma 2023-03-02 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 430 of the PALLD protein (p.Pro430Leu). This variant is present in population databases (rs756934356, gnomAD 0.004%). 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: 845485). 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 RCV004031514 SCV003855264 uncertain significance not specified 2022-12-08 criteria provided, single submitter clinical testing The p.P917L variant (also known as c.2750C>T), located in coding exon 15 of the PALLD gene, results from a C to T substitution at nucleotide position 2750. The proline at codon 917 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003405249 SCV004108737 uncertain significance PALLD-related disorder 2022-11-10 criteria provided, single submitter clinical testing The PALLD c.2750C>T variant is predicted to result in the amino acid substitution p.Pro917Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0047% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-169837129-C-T) and interpreted as a variant of uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/845485/). 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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