ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2530G>A (p.Ala844Thr)

dbSNP: rs370203821
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 RCV001241322 SCV001414332 uncertain significance not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 844 of the PCARE protein (p.Ala844Thr). This variant is present in population databases (rs370203821, gnomAD 0.1%). This missense change has been observed in individual(s) with inherited retinal and/or optic nerve disorders (PMID: 32483926). ClinVar contains an entry for this variant (Variation ID: 966603). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Dept Of Ophthalmology, Nagoya University RCV003887954 SCV004705327 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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.