ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro)

gnomAD frequency: 0.00001  dbSNP: rs1164918878
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
Counsyl RCV000668455 SCV000793062 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-07-27 criteria provided, single submitter clinical testing
Invitae RCV003558497 SCV004294149 likely pathogenic not provided 2023-04-03 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYO7A protein function. ClinVar contains an entry for this variant (Variation ID: 553080). This missense change has been observed in individual(s) with autosomal recessive Usher syndrome (PMID: 27460420). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1836 of the MYO7A protein (p.Leu1836Pro).

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.