ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) (rs141594765)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235803 SCV000293047 uncertain significance not specified 2015-08-28 criteria provided, single submitter clinical testing The P787L variant has been reported previously in the heterozygous state in an individual with CMT2; however, no conclusions regarding the pathogenicity of this variant can be made from this report (Hoyer at al., 2014). The P787L variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The 1000 Genomes Project reports P787L was observed in 2/1006 (0.2%) alleles from individuals of European background. The P787L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts the P787L variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000348006 SCV000373795 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514865 SCV000610077 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000514865 SCV000764349 likely benign not provided 2019-02-08 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.