ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro)

dbSNP: rs869025294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524375 SCV001734198 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-05 criteria provided, single submitter clinical testing This missense variant replaces serine with proline at codon 500 of the PALB2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002478746 SCV002777073 uncertain significance Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 2022-02-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477707 SCV004222264 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Faculty of Pharmacy, Medical University of Gdansk RCV000207336 SCV000262649 uncertain significance Familial cancer of breast 2014-02-01 no assertion criteria provided research

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