Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375173 | SCV001571731 | likely pathogenic | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PVS1_Strong, PM2_Moderate |
Fulgent Genetics, |
RCV002476713 | SCV002777542 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 77 | 2022-03-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003727992 | SCV004539930 | pathogenic | not provided | 2023-09-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn1715Thrfs*4) 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 present in population databases (rs776345911, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LOXHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1064937). |