ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.5662A>G (p.Arg1888Gly)

dbSNP: rs1591464171
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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 RCV000826050 SCV000967544 likely pathogenic Rare genetic deafness 2019-06-20 criteria provided, single submitter clinical testing The p.Arg1888Gly variant in TECTA has been reported by our laboratory in 1 individual with mid-frequency moderately-severe sensorineural hearing loss in whom the variant was confirmed de novo. This variant was absent from large population studies. Computational prediction tools and conservation analysis suggest an impact to the protein. 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 dominant nonsyndromic hearing loss. ACMG/AMP Criteria applied: PS2, PM2, PP3.

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