Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000413055 | SCV000490899 | pathogenic | not provided | 2016-01-25 | criteria provided, single submitter | clinical testing | The Q1242X nonsense variant in the MYO7A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1242X variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this variant has not been reported previously to our knowledge, we interpret it as pathogenic. |
| Counsyl | RCV000670142 | SCV000794961 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-10-30 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000763280 | SCV000893924 | pathogenic | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000413055 | SCV003223608 | pathogenic | not provided | 2022-07-12 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 372560). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 33576163). This sequence change creates a premature translational stop signal (p.Gln1242*) 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). |