ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)

gnomAD frequency: 0.00001  dbSNP: rs2052544781
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
King Laboratory, University of Washington RCV003155588 SCV003844185 likely pathogenic Autosomal recessive nonsyndromic hearing loss 8 2023-02-28 criteria provided, single submitter research This variant occurred in compound heterozygosity with a TMPRSS3 frameshift variant in a patient with bilateral sensorineural hearing loss of onset <18 years, in a study of pediatric hearing loss conducted by the King Laboratory (Carlson RJ et al. JAMA-OtoHNS 2023). The patient’s family has no other history of hearing loss. This variant is a missense at a highly conserved site in the peptidase S1 domain of the TMPRSS3 protein and is predicted to be damaging by multiple in-silico tools. As of January 2023, this variant has not been reported to ClinVar and is not found on gnomAD. Based on consistently predicted functional effect, compound heterozygosity with a loss-of-function variant, and goodness of fit of genotype to phenotype, we conclude that this variant is likely pathogenic.

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