ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.3658G>C (p.Gly1220Arg)

dbSNP: rs146754758
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV000217524 SCV000269325 benign not specified 2015-06-01 criteria provided, single submitter clinical testing p.Gly1220Arg in exon 3 of MYO15A: This variant is not expected to have clinical significance it has been identified in 12/194 of CHB (Chinese) chromosomes by t he 1000 Genomes project and in 0.3% (27/9574) of African chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs14675475 8). In addition, the glycine (Gly) residue at position 1220 is not conserved thr ough species, with more than 10 mammals having an arginine (Arg) at this positio n.
Invitae RCV000894118 SCV001038086 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000894118 SCV001823421 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23865914)
PreventionGenetics, part of Exact Sciences RCV003907796 SCV004721749 likely benign MYO15A-related condition 2020-03-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.