ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8100del (p.Lys2701fs)

dbSNP: rs397517287
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038989 SCV000062667 pathogenic Rare genetic deafness 2013-02-25 criteria provided, single submitter clinical testing The Lys2701fs variant in MYO15A has not been reported in the literature nor prev iously identified by our laboratory. This frameshift variant is predicted to alt er the protein?s amino acid sequence beginning at position 2701 and lead to a pr emature termination codon 37 amino acids downstream. This alteration is then pre dicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Fulgent Genetics, Fulgent Genetics RCV005016324 SCV005644774 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2024-05-22 criteria provided, single submitter clinical testing

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.