Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003771673 | SCV004642073 | pathogenic | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro50Serfs*35) in the TMPRSS3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMPRSS3 are known to be pathogenic (PMID: 16021470, 26969326). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 32306631). ClinVar contains an entry for this variant (Variation ID: 1185654). For these reasons, this variant has been classified as Pathogenic. |
Deafness Molecular Diagnostic Center, |
RCV001823263 | SCV001763625 | pathogenic | Autosomal recessive nonsyndromic hearing loss 8 | no assertion criteria provided | case-control |