ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg)

gnomAD frequency: 0.00005  dbSNP: rs374583073
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) RCV000175905 SCV000227478 uncertain significance not provided 2014-12-12 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV001260234 SCV001437202 likely pathogenic Brittle cornea syndrome 2 2020-08-01 criteria provided, single submitter clinical testing
Invitae RCV000175905 SCV002146738 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 36 of the PRDM5 protein (p.Gly36Arg). This variant is present in population databases (rs374583073, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of PRDM5-related conditions (PMID: 33739556). ClinVar contains an entry for this variant (Variation ID: 195343). 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: "Probably Damaging"; 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277367 SCV002566043 uncertain significance Ehlers-Danlos syndrome 2020-12-10 criteria provided, single submitter clinical testing

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.