ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.1860dup (p.Met621fs)

dbSNP: rs1258766593
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 RCV003094065 SCV002961447 pathogenic not provided 2022-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Met621Hisfs*43) in the MYO5B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO5B are known to be pathogenic (PMID: 18724368, 20186687). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with early-onset cholestasis (PMID: 32304554). ClinVar contains an entry for this variant (Variation ID: 1686961).
OMIM RCV002248429 SCV002520528 pathogenic Cholestasis, progressive familial intrahepatic, 10 2022-05-20 no assertion criteria provided literature only

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.