ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)

dbSNP: rs587777672
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
Fulgent Genetics, Fulgent Genetics RCV000133589 SCV002809370 likely pathogenic Myopathy, centronuclear, 5 2021-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089662 SCV005834359 pathogenic not provided 2024-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2233*) in the SPEG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPEG are known to be pathogenic (PMID: 19118250, 25087613). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with centronuclear myopathy (PMID: 25087613). ClinVar contains an entry for this variant (Variation ID: 144077). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000133589 SCV000188654 pathogenic Myopathy, centronuclear, 5 2014-08-07 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.