ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2571G>A (p.Leu857=)

dbSNP: rs587780821
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123339 SCV000166653 likely benign Familial cancer of breast 2023-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000486288 SCV000565352 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing This variant is denoted PALB2 c.2571G>A at the DNA level. This variant is silent at the coding level, preserving a Leucine at codon 857. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. PALB2 c.2571G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a guanine (G) at base 2571, is conserved through mammals. Based on currently available information, it is unclear whether PALB2 c.2571G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000560973 SCV000666869 likely benign Hereditary cancer-predisposing syndrome 2015-10-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health RCV000560973 SCV000685958 likely benign Hereditary cancer-predisposing syndrome 2021-01-12 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535717 SCV001749805 not provided Fanconi anemia complementation group N; Hereditary cancer-predisposing syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-10-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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