ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7655G>A (p.Arg2552His)

gnomAD frequency: 0.00063  dbSNP: rs199589423
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
Genetic Services Laboratory, University of Chicago RCV000147207 SCV000194574 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593921 SCV000708144 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing
Invitae RCV000593921 SCV002249599 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2552 of the PCNT protein (p.Arg2552His). This variant is present in population databases (rs199589423, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. ClinVar contains an entry for this variant (Variation ID: 159661). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine 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.
PreventionGenetics, part of Exact Sciences RCV003982904 SCV004796311 likely benign PCNT-related condition 2022-02-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.