Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375174 | SCV001571732 | likely pathogenic | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PVS1_Strong, PM2_Moderate, BP4_Supporting |
Invitae | RCV003771214 | SCV004660799 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1907*) in the LOXHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LOXHD1 are known to be pathogenic (PMID: 19732867, 21465660, 25792669). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1064938). This variant has not been reported in the literature in individuals affected with LOXHD1-related conditions. |