Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001376750 | SCV001573911 | pathogenic | not provided | 2023-08-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in activation of a cryptic splice site and introduces a new termination codon (PMID: 20052763). However the mRNA is not expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 1065905). This variant has been observed in individual(s) with clinical features of Usher syndrome (PMID: 24944099; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 53 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein. |