Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000220106 | SCV000271255 | likely pathogenic | Rare genetic deafness | 2015-06-11 | criteria provided, single submitter | clinical testing | The p.Met272ValfsX4 variant in OTOGL has not been previously reported in individ uals with hearing loss, but has been identified in 2/12820 chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 272 and leads to a premature termination codon 4 amino acids downstream . This alteration is then predicted to lead to a truncated or absent protein. I n summary, although additional studies are required to fully establish its clini cal significance, this variant is likely pathogenic. |
| Labcorp Genetics |
RCV001383852 | SCV001583162 | pathogenic | not provided | 2024-02-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met272Valfs*4) in the OTOGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTOGL are known to be pathogenic (PMID: 23122586). This variant is present in population databases (rs776663993, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with OTOGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 228285). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV001786342 | SCV005630302 | pathogenic | Autosomal recessive nonsyndromic hearing loss 84B | 2024-01-17 | criteria provided, single submitter | clinical testing | |
| Service de Biologie Medicale, |
RCV001786342 | SCV001712144 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84B | 2017-03-29 | no assertion criteria provided | clinical testing |