ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)

gnomAD frequency: 0.00041  dbSNP: rs138962786
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000449519 SCV000537848 uncertain significance Global developmental delay 2017-02-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502541 SCV000596260 uncertain significance not specified 2016-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764270 SCV000895284 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000764270 SCV001523585 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001577090 SCV001804415 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001577090 SCV002141030 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 215 of the PCNT protein (p.Cys215Tyr). This variant is present in population databases (rs138962786, gnomAD 0.04%). 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: 397627). 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. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000764270 SCV004562311 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2023-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001577090 SCV004811004 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing PCNT: BP4
PreventionGenetics, part of Exact Sciences RCV003401441 SCV004112380 uncertain significance PCNT-related disorder 2024-09-29 no assertion criteria provided clinical testing The PCNT c.644G>A variant is predicted to result in the amino acid substitution p.Cys215Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.043% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.