ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.3G>A (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs1555258369
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
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre RCV000513098 SCV000607740 likely pathogenic Familial isolated restrictive cardiomyopathy 2017-05-15 criteria provided, single submitter research The patient presented with typical signs of restrictive cardiomyopathy at 24 y.o. No signs of system disorder haven been noted. The family history did not report a consanguinity with homozygous status of the mutation suspect with condition.
Labcorp Genetics (formerly Invitae), Labcorp RCV000639673 SCV000761253 uncertain significance Hypertrophic cardiomyopathy 10 2022-08-31 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects the initiator methionine of the MYL2 mRNA. The next in-frame methionine is located at codon 20. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 30297972). ClinVar contains an entry for this variant (Variation ID: 444868).

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.