ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter)

dbSNP: rs1057519573
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001389633 SCV001591062 pathogenic Dilated cardiomyopathy 1KK 2024-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1072*) in the MYPN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYPN are known to be pathogenic (PMID: 28017374). This variant is present in population databases (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with nemaline myopathy (PMID: 28017374). ClinVar contains an entry for this variant (Variation ID: 375568). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003233632 SCV003930981 pathogenic not provided 2022-12-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28017374)
OMIM RCV000417040 SCV000494599 pathogenic MYPN-related myopathy 2024-07-16 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.