ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.1060C>T (p.Gln354Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018187 SCV004848717 likely pathogenic Rare genetic deafness 2022-06-30 criteria provided, single submitter clinical testing The p.Gln354X variant in TECTA has not been previously reported in individuals with nonsyndromic hearing loss and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 354, which is predicted to lead to a truncated or absent protein. Loss of function of the TECTA gene is an established disease mechanism in autosomal recessive nonsyndromic hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive nonsyndromic hearing loss. ACMG/AMP Criteria applied: PVS1, PM2_Supporting.

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