ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2864C>T (p.Pro955Leu)

dbSNP: rs2126493927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372752 SCV001569437 uncertain significance Pancreatic adenocarcinoma 2014-06-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, MutationTaster, AlignGVGD) suggest that this sequence change is likely to be disruptive, but these predictions have not been confirmed by functional studies. This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population.
Ambry Genetics RCV004037541 SCV005027057 uncertain significance not specified 2023-12-14 criteria provided, single submitter clinical testing The p.P938L variant (also known as c.2813C>T), located in coding exon 16 of the PALLD gene, results from a C to T substitution at nucleotide position 2813. The proline at codon 938 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.

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