ClinVar Miner

Submissions for variant NM_001039213.4(CEACAM16):c.1135C>T (p.Arg379Trp)

gnomAD frequency: 0.00002  dbSNP: rs771692758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375400 SCV001571881 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PM3_Supporting, PP3_Supporting
Fulgent Genetics, Fulgent Genetics RCV002488191 SCV002781494 uncertain significance Autosomal dominant nonsyndromic hearing loss 4B; Hearing loss, autosomal recessive 113 2021-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094505 SCV005814889 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 379 of the CEACAM16 protein (p.Arg379Trp). This variant is present in population databases (rs771692758, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with CEACAM16-related conditions. ClinVar contains an entry for this variant (Variation ID: 1065067). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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