ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12694CCA[3]

dbSNP: rs201979617
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535774 SCV000656943 benign Pancreatic adenocarcinoma 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001613380 SCV001836840 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001358463 SCV005463849 benign not specified 2024-10-29 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358463 SCV001554204 benign not specified no assertion criteria provided clinical testing The PALLD p.Pro115dup variant was not identified in the literature nor was it identified in COSMIC. The variant was identified in dbSNP (ID: rs201979617) and ClinVar (classified as benign by Invitae). The variant was identified in control databases in 597 of 142532 chromosomes (8 homozygous) at a frequency of 0.004189 (Genome Aggregation Database March 6, 2019, v2.1.1). This variant is an in-frame insertion resulting in the duplication of a proline (pro) residue at codon 115; the impact of this alteration on PALLD protein function is not known. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign.

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