ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.502C>G (p.Leu168Val)

gnomAD frequency: 0.00299  dbSNP: rs115607645
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337469 SCV000448463 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.
Ambry Genetics RCV004021947 SCV002642990 uncertain significance not specified 2022-09-08 criteria provided, single submitter clinical testing The p.L168V variant (also known as c.502C>G), located in coding exon 1 of the PALLD gene, results from a C to G substitution at nucleotide position 502. The leucine at codon 168 is replaced by valine, an amino acid with highly 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000337469 SCV004016533 likely benign Pancreatic cancer, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716174 SCV005303916 benign not provided criteria provided, single submitter not provided

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