ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro)

dbSNP: rs1800117244
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
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250283 SCV001424595 uncertain significance Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.614T>C in the PRPH2 gene has not been reported to our knowledge . We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is not listed in dbSNP and/or HGMD. It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM1, PM2, PP3] and classified NM_000322.4:c.614T>C in the PRPH2 gene as a Variant of Uncertain Significance.
GeneDx RCV001530237 SCV001823132 uncertain significance not provided 2019-03-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32531846)
Labcorp Genetics (formerly Invitae), Labcorp RCV003770295 SCV004641532 uncertain significance PRPH2-related disorder 2023-01-08 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: 973709). This missense change has been observed in individual(s) with PRPH2-related conditions (PMID: 32531846, 34411390). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 205 of the PRPH2 protein (p.Leu205Pro).
Leiden Open Variation Database RCV001530237 SCV001744977 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.