ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2393T>C (p.Met798Thr)

gnomAD frequency: 0.00102  dbSNP: rs142116575
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083259 SCV000166485 likely benign Pancreatic adenocarcinoma 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365201 SCV000448486 benign Pancreatic cancer, susceptibility to, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV003389732 SCV001154316 benign not provided 2022-05-01 criteria provided, single submitter clinical testing PALLD: BS1, BS2
Ambry Genetics RCV002444582 SCV002732625 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-12 criteria provided, single submitter clinical testing The p.M781T variant (also known as c.2342T>C), located in coding exon 12 of the PALLD gene, results from a T to C substitution at nucleotide position 2342. The methionine at codon 781 is replaced by threonine, 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.

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