ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.186G>A (p.Lys62=)

gnomAD frequency: 0.29323  dbSNP: rs1806729
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000295176 SCV000448459 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454887 SCV000539988 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV002520225 SCV001016753 benign Pancreatic adenocarcinoma 2022-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000874562 SCV001943946 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000454887 SCV002723477 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 RCV000295176 SCV004016514 benign Pancreatic cancer, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing

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