ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.95T>C (p.Val32Ala)

gnomAD frequency: 0.00024  dbSNP: rs200574321
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
Mayo Clinic Laboratories, Mayo Clinic RCV001507499 SCV001713091 uncertain significance not provided 2020-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001507499 SCV002298612 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 32 of the MYO18B protein (p.Val32Ala). This variant is present in population databases (rs200574321, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with MYO18B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1162878). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Revvity Omics, Revvity RCV003132509 SCV003817812 likely benign Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2024-01-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001507499 SCV005195330 uncertain significance not provided criteria provided, single submitter not provided

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.