ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2749G>A (p.Glu917Lys)

gnomAD frequency: 0.00008  dbSNP: rs372708613
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687569 SCV000815144 uncertain significance Pancreatic adenocarcinoma 2023-09-15 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 413 of the PALLD protein (p.Glu413Lys). This variant is present in population databases (rs372708613, gnomAD 0.02%). 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: 567473).
Ambry Genetics RCV002424594 SCV002743459 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-15 criteria provided, single submitter clinical testing The p.E900K variant (also known as c.2698G>A), located in coding exon 15 of the PALLD gene, results from a G to A substitution at nucleotide position 2698. The glutamic acid at codon 900 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Ambry Genetics RCV002547116 SCV003745411 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.1237G>A (p.E413K) alteration is located in exon 8 (coding exon 7) of the PALLD gene. This alteration results from a G to A substitution at nucleotide position 1237, causing the glutamic acid (E) at amino acid position 413 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003420218 SCV004116584 uncertain significance PALLD-related disorder 2022-11-11 criteria provided, single submitter clinical testing The PALLD c.2698G>A variant is predicted to result in the amino acid substitution p.Glu900Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-169837077-G-A) and has been interpreted in ClinVar as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/567473). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.