ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala)

gnomAD frequency: 0.00001  dbSNP: rs762148129
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 RCV000504217 SCV000596364 uncertain significance not specified 2016-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765506 SCV000896811 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001755747 SCV001987651 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003962395 SCV004780612 uncertain significance PCNT-related condition 2024-01-10 criteria provided, single submitter clinical testing The PCNT c.3443T>C variant is predicted to result in the amino acid substitution p.Val1148Ala. To our knowledge, this variant has not been reported in the literature. The amino acid residue p.Val1148 of the PCNT protein has been weakly conserved during evolution. This variant is reported in 0.023% of alleles in individuals of Latino descent in gnomAD. 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.