Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485760 | SCV000565297 | pathogenic | not provided | 2015-09-09 | criteria provided, single submitter | clinical testing | The c.338_348dup11 frameshift variant in the MYO7A gene has been reported previously in association with Usher syndrome (Le Quesne Stabej et al., 2012). The c.338_348dup11 duplication in the MYO7A gene causes a frameshift starting with codon Glutamic acid 117, changes this amino acid to a Serine residue and creates a premature Stop codon at position 33 of the new reading frame, denoted p.Glu117SerfsX33. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore we interpret c.338_348dup11 to be a pathogenic variant. |
Invitae | RCV000485760 | SCV003440350 | pathogenic | not provided | 2022-04-10 | 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: 418366). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 22135276). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu117Serfs*33) 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). |