ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.432del (p.Gln144fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002941949 SCV003267061 pathogenic not provided 2024-02-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln144Hisfs*8) 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 present in population databases (rs780609668, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 31379920). ClinVar contains an entry for this variant (Variation ID: 2057266). For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004819247 SCV005440646 pathogenic Autosomal recessive nonsyndromic hearing loss 8 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_Supporting
Fulgent Genetics, Fulgent Genetics RCV004819247 SCV005664124 pathogenic Autosomal recessive nonsyndromic hearing loss 8 2024-06-18 criteria provided, single submitter clinical testing

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