ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.558G>A (p.Thr186=)

gnomAD frequency: 0.00004  dbSNP: rs140695242
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151376 SCV000199376 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Thr186Thr in exon 4 of MYLK2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/3738 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs140695242).
Invitae RCV000457229 SCV000544635 likely benign Hypertrophic cardiomyopathy 1 2024-01-12 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000457229 SCV003920257 uncertain significance Hypertrophic cardiomyopathy 1 2021-03-30 criteria provided, single submitter clinical testing MYLK2 NM_033118.3 exon 4 p.Thr186= (c.558G>A): This variant has not been reported in the literature but is present in 0.02% (5/18384) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/20-30409326-G-A). This variant is present in ClinVar (Variation ID:164498). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.