ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2723G>A (p.Arg908His)

gnomAD frequency: 0.00011  dbSNP: rs114171764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230245 SCV000286287 likely benign Pancreatic adenocarcinoma 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020778 SCV002743876 uncertain significance not specified 2022-10-30 criteria provided, single submitter clinical testing The p.R891H variant (also known as c.2672G>A), located in coding exon 15 of the PALLD gene, results from a G to A substitution at nucleotide position 2672. The arginine at codon 891 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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