ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5857-3C>A

gnomAD frequency: 0.00002  dbSNP: rs727505114
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 RCV000156568 SCV000206287 uncertain significance not specified 2014-05-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The 5857-3C>A v ariant in MYO7A has been reported one individual with hearing loss but was absen t in large population studies (LMM unpublished data). A second variant in MYO7A was not identified in this individual. This variant is located in the 3' splice region. Computational tools suggest an impact to splicing. However, this informa tion is not predictive enough to determine pathogenicity. In summary, while the available data on the 5857-3C>A variant is suspicious for pathogenicity, the cli nical significance of this variant is uncertain.
Counsyl RCV000672871 SCV000798019 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001307978 SCV001497410 uncertain significance not provided 2024-11-08 criteria provided, single submitter clinical testing This sequence change falls in intron 42 of the MYO7A gene. It does not directly change the encoded amino acid sequence of the MYO7A protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 179770). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 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.
Natera, Inc. RCV001275526 SCV001460741 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided 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.