Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000333423 | SCV000341150 | likely pathogenic | not provided | 2016-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000333423 | SCV001776778 | pathogenic | not provided | 2022-02-23 | criteria provided, single submitter | clinical testing | Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 24 amino acids are lost and replaced with 5 incorrect amino acids (HGMD); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28944237) |
Invitae | RCV000333423 | SCV003442514 | pathogenic | not provided | 2023-05-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 287391). This premature translational stop signal has been observed in individual(s) with USH1G-related conditions (PMID: 28944237). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys438Argfs*6) in the USH1G gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH1G are known to be pathogenic (PMID: 12588794, 22219650). |
Biochemical Molecular Genetic Laboratory, |
RCV000985188 | SCV001133203 | likely pathogenic | Usher syndrome type 1G | 2019-09-26 | no assertion criteria provided | clinical testing |