ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.1688+1G>T

gnomAD frequency: 0.00001  dbSNP: rs727503350
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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 RCV000151585 SCV000199737 pathogenic Rare genetic deafness 2014-09-09 criteria provided, single submitter clinical testing The c.1688+1G>T variant in OTOA has not been previously reported in individuals with hearing loss or in large population studies. This variant occurs in the inv ariant region (+ 1/2) of the 5' splice consensus sequence and is predicted to ca use altered splicing leading to an abnormal or absent protein. In summary, this variant meets our criteria to be classified as pathogenic for hearing loss in an autosomal recessive manner.

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