Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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). |