ClinVar Miner

Submissions for variant NM_004452.3(ESRRB):c.(?_1)_(1527_?)del

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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 RCV000156636 SCV000206357 likely pathogenic Rare genetic deafness 2014-06-23 criteria provided, single submitter clinical testing The deletion of exons 4 through 11 in the ESRRB gene has not been previously rep orted in individuals with hearing loss. The deletion of exons 4 through 11 detec ted in this individual encompasses the entire coding region of this gene and the refore it is expected to lead to an absent protein. Loss of function variants in ESRRB have been associated with autosomal recessive sensorineural hearing loss, however the exact mechanism of disease has not yet been established. In summary , this variant is likely to be pathogenic, though additional studies are require d to fully establish its clinical significance. The endpoints of this deletion c annot be determined and follow-up testing by chromosomal microarray may be able to assess the involvement of noncoding exons of ESRRB (exons 1-3) and/or neighbo ring genes.

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