ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.3087T>A (p.Phe1029Leu)

gnomAD frequency: 0.00010  dbSNP: rs189021816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545496 SCV000656935 likely benign Pancreatic adenocarcinoma 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024366 SCV002752832 uncertain significance not specified 2023-10-05 criteria provided, single submitter clinical testing The p.F1012L variant (also known as c.3036T>A), located in coding exon 17 of the PALLD gene, results from a T to A substitution at nucleotide position 3036. The phenylalanine at codon 1012 is replaced by leucine, an amino acid with highly 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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