ClinVar Miner

Submissions for variant NM_020884.5(MYH7B):c.1272_1273del (p.Ser425Cysfs)

dbSNP: rs771172991
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005092166 SCV005731400 uncertain significance not provided 2024-08-12 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 16 (c.1273_1273+1del) of the MYH7B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7B cause disease. This variant is present in population databases (rs771172991, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MYH7B-related conditions. 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.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000736177 SCV000864474 pathogenic Short stature 2001-11-18 no assertion criteria provided case-control

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.