ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1200+1G>A

dbSNP: rs397516283
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 RCV000036042 SCV000059694 pathogenic Rare genetic deafness 2010-08-17 criteria provided, single submitter clinical testing The 1200+1G>A variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. The 1200+1G>A variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant re gion of the splice consensus sequence. Therefore, this variant meets our criteri a to be classified as pathogenic.
Counsyl RCV000672265 SCV000797356 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852737 SCV002301141 likely pathogenic not provided 2021-07-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 43138). This sequence change affects a donor splice site in intron 11 of the MYO7A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005007939 SCV005632209 likely pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2024-05-03 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.