ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.877C>G (p.Leu293Val)

dbSNP: rs780027419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University RCV000474747 SCV000538186 pathogenic X-linked mixed hearing loss with perilymphatic gusher 2017-03-04 no assertion criteria provided clinical testing The proband and his mother's brother were profound hearing loss since birth , and his mother and father were normal hearing. Then the proband and his mother's brother obtained MRI of inner ear which showed partial cochlear hypoplasia. The genetic analysis showed that the proband and his mother's brother were hemizygous mutation and his mother was carrier of this mutation.

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