ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.321_322insA (p.Tyr108fs)

gnomAD frequency: 0.00001  dbSNP: rs1324244950
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
GeneDx RCV001008197 SCV001167963 pathogenic not provided 2019-08-12 criteria provided, single submitter clinical testing The c.321_322insA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). It causes a frameshift starting with codon Tyrosine 108, changes this amino acid to an Isoleucine residue and creates a premature Stop codon at position 32 of the new reading frame, denoted p.Tyr108IlefsX32. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret c.321_322insA as a pathogenic variant.
Invitae RCV001008197 SCV001390798 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 817097). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr108Ilefs*32) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053).

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.