ClinVar Miner

Submissions for variant NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala)

gnomAD frequency: 0.00002  dbSNP: rs755154488
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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 RCV000221841 SCV000271580 likely pathogenic Rare genetic deafness 2016-07-06 criteria provided, single submitter clinical testing The p.Thr396Ala variant in CEACAM16 has been reported by our laboratory in one i ndividual with hearing loss and segregated in three affected family members (thi s individual's family). This variant has been identified in 1/52160 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs755154488). Please note that for diseases with clinical variabili ty, reduced penetrance, or recessive inheritance, pathogenic variants may be pre sent at a low frequency in the general population. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, although additional studies are required to full y establish its clinical significance, this variant is likely pathogenic for aut osomal dominant hearing loss based on the segregation of the variant in several individuals with hearing loss.

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