ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.371-2A>C

dbSNP: rs876657644
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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 RCV000223505 SCV000271222 likely pathogenic Rare genetic deafness 2015-05-21 criteria provided, single submitter clinical testing The c.371-2A>C variant in EYA4 has not been previously reported in individuals w ith hearing loss or in large population studies. This variant occurs in the inva riant region (+/- 1,2) of the splice consensus sequence and is predicted to caus e altered splicing leading to an abnormal or absent protein. In summary, althoug h additional studies are required to fully establish its clinical significance, the c.371-2A>C variant is likely pathogenic.

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