Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003062434 | SCV003439857 | likely pathogenic | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in individual(s) with MYO7A-related conditions (PMID: 16963483). This sequence change affects an acceptor splice site in intron 24 of the MYO7A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). This variant is present in population databases (rs781977497, gnomAD 0.003%). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Institute of Medical Genetics and Applied Genomics, |
RCV003155502 | SCV003844063 | likely pathogenic | Usher syndrome type 1 | 2023-03-24 | criteria provided, single submitter | clinical testing | second variant in MYO7A detected, allelic testing pending |
| Institute of Human Genetics, |
RCV004817192 | SCV005073397 | pathogenic | Retinal dystrophy | 2010-01-01 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005002927 | SCV005632235 | likely pathogenic | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2024-02-09 | criteria provided, single submitter | clinical testing |