ClinVar Miner

Submissions for variant NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)

gnomAD frequency: 0.00001  dbSNP: rs200876642
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
Invitae RCV001869149 SCV002110819 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 632594). This missense change has been observed in individual(s) with clinical features of PUS3-related intellectual disability syndrome (PMID: 30697592, 31474318). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs200876642, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 166 of the PUS3 protein (p.Arg166Gln).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002245665 SCV002512660 uncertain significance Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 2022-02-21 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM2 moderate, PM3 supporting, BP4 supporting
Dobyns Lab, Seattle Children's Research Institute RCV000779647 SCV000916326 likely pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome; Genetic syndrome with a Dandy-Walker malformation as major feature 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001258001 SCV001434814 likely pathogenic Dandy-Walker syndrome no assertion criteria provided research

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.