ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2679A>G (p.Arg893=)

gnomAD frequency: 0.12743  dbSNP: rs1059444
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000312336 SCV000448488 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.
Invitae RCV000860256 SCV001000241 benign Pancreatic adenocarcinoma 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001691995 SCV001907983 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021955 SCV002741220 benign not specified 2020-07-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000312336 SCV004016517 benign Pancreatic cancer, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing

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