ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.122T>C (p.Leu41Pro)

dbSNP: rs2152011091
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001882583 SCV002259628 uncertain significance PRPH2-related disorder 2021-10-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 1175250). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 41 of the PRPH2 protein (p.Leu41Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Leiden Open Variation Database RCV001530292 SCV001745053 uncertain significance not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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.