ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs)

dbSNP: rs2146452391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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, Chinese PLA General Hospital RCV001823263 SCV001763625 pathogenic Autosomal recessive nonsyndromic hearing loss 8 no assertion criteria provided case-control

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