ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe)

dbSNP: rs267606690
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
Invitae RCV002512591 SCV003524158 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 201 of the PCARE protein (p.Ile201Phe). This variant is present in population databases (rs267606690, gnomAD 0.0009%). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 20398886; Invitae). ClinVar contains an entry for this variant (Variation ID: 102). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects PCARE function (PMID: 32312818). 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.
OMIM RCV000000122 SCV000020265 pathogenic Retinitis pigmentosa 54 2010-05-14 no assertion criteria provided literature only

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.