ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1694G>T (p.Ser565Ile)

dbSNP: rs876659914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479988 SCV000569294 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing This variant is denoted PALB2 c.1694G>T at the cDNA level, p.Ser565Ile (S565I) at the protein level, and results in the change of a Serine to an Isoleucine (AGT>ATT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PALB2 Ser565Ile was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Serine and Isoleucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. PALB2 Ser565Ile occurs at a position that is not conserved and is located in the DNA binding region (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether PALB2 Ser565Ile is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005018803 SCV005646490 uncertain significance Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 2024-04-16 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005230941 SCV005872947 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000479988 SCV001193146 uncertain significance not provided 2018-10-10 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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