ClinVar Miner

Submissions for variant NM_001039213.4(CEACAM16):c.1054C>T (p.Arg352Cys)

gnomAD frequency: 0.00001  dbSNP: rs747961516
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Total submissions: 2
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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 RCV001195597 SCV001365996 uncertain significance not specified 2019-08-14 criteria provided, single submitter clinical testing The p.Arg352Cys variant in CEACAM16 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375103 SCV001571968 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate

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