Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000036166 | SCV000059818 | pathogenic | Rare genetic deafness | 2010-08-13 | criteria provided, single submitter | clinical testing | The Tyr1607X variant in MYO7A has not been reported in the literature nor previo usly identified by our laboratory. However, this variant leads to a premature st op codon at codon 1607, which is predicted to lead to a truncated or absent prot ein. In summary, this variant meets our criteria to be classified as pathogenic. |
| Counsyl | RCV000670662 | SCV000795546 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-11-09 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001201930 | SCV001373025 | pathogenic | not provided | 2023-08-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 43261). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is present in population databases (rs397516315, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Tyr1607*) 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). |