ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)

gnomAD frequency: 0.00020  dbSNP: rs201088712
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194381 SCV000246950 likely pathogenic Seckel syndrome 4 2014-11-26 criteria provided, single submitter clinical testing
Invitae RCV002517063 SCV003259497 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 421 of the CENPJ protein (p.Gln421His). This variant is present in population databases (rs201088712, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CENPJ-related conditions. ClinVar contains an entry for this variant (Variation ID: 210654). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002517062 SCV003746059 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.1263G>C (p.Q421H) alteration is located in exon 7 (coding exon 6) of the CENPJ gene. This alteration results from a G to C substitution at nucleotide position 1263, causing the glutamine (Q) at amino acid position 421 to be replaced by a histidine (H). 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.