ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.3397C>T (p.Arg1133Trp)

gnomAD frequency: 0.00004  dbSNP: rs775800465
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
Invitae RCV001860579 SCV002181091 uncertain significance not provided 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1133 of the MYO18B protein (p.Arg1133Trp). This variant is present in population databases (rs775800465, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of MYO18B-related conditions (PMID: 31230720). ClinVar contains an entry for this variant (Variation ID: 816844). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
CeGaT Center for Human Genetics Tuebingen RCV001860579 SCV004154771 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007847 SCV001167545 uncertain significance Klippel-Feil anomaly-myopathy-facial dysmorphism 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.