ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2437A>G (p.Ile813Val)

dbSNP: rs766396469
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216460 SCV000275697 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-08 criteria provided, single submitter clinical testing The p.I813V variant (also known as c.2437A>G), located in coding exon 5 of the PALB2 gene, results from an A to G substitution at nucleotide position 2437. The isoleucine at codon 813 is replaced by valine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6497 samples (12994 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 70000 alleles tested) in our clinical cohort. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence for this variant is limited at this time, the clinical significance of p.I813V remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000216460 SCV004357867 likely benign Hereditary cancer-predisposing syndrome 2016-03-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.