ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile)

gnomAD frequency: 0.00009  dbSNP: rs112633352
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
Eurofins Ntd Llc (ga) RCV000330953 SCV000336742 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000330953 SCV000596311 uncertain significance not specified 2016-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855137 SCV002171983 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2434 of the PCNT protein (p.Leu2434Ile). This variant is present in population databases (rs112633352, gnomAD 0.02%). 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: 284215). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004021155 SCV005002899 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.7300C>A (p.L2434I) alteration is located in exon 33 (coding exon 33) of the PCNT gene. This alteration results from a C to A substitution at nucleotide position 7300, causing the leucine (L) at amino acid position 2434 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.