Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000220369 | SCV000271419 | pathogenic | Rare genetic deafness | 2015-06-10 | criteria provided, single submitter | clinical testing | The p.Cys705X variant in MYO7A has been reported as a homozygous variant in one individual with Usher syndrome type 1 (Yoshimura 2014). It has also been identif ied in 2/8608 East Asian chromosomes by the Exome Aggregation Consortium (http:/ /exac.broadinstitute.org). Although this variant has been seen in the general po pulation, its frequency is low enough to be consistent with a recessive carrier frequency. This nonsense variant creates a premature termination codon at positi on 705 and is predicted to lead to a truncated or absent protein. In summary, th is variant meets our criteria to be classified as pathogenic for Usher syndrome (www.partners.org/personalizedmedicine/lmm). |
| Invitae | RCV003556279 | SCV004294132 | pathogenic | not provided | 2023-02-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys705*) 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). This variant is present in population databases (rs782255281, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 24618850, 33691693). ClinVar contains an entry for this variant (Variation ID: 228377). For these reasons, this variant has been classified as Pathogenic. |
| Genetic Testing Center for Deafness, |
RCV000770844 | SCV000902345 | pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2019-02-26 | no assertion criteria provided | case-control |