ClinVar Miner

Submissions for variant NM_014332.3(SMPX):c.87dup (p.Gly30fs) (rs1569308571)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yong Feng Lab,Central South University RCV000626484 SCV000607737 pathogenic Deafness, X-linked 2017-10-01 no assertion criteria provided research In the pedigree, the type of most subjects is sensorineural hearing loss that presents binaural symmetrical decrease, and one patient has severe hearing loss in the right ear and normal hearing in the left ear. Male patients onset age is earlier than female patients, male patients onset age is 7-years-old , and female patients onset age is more than 30-years-old. The serious rate of hearing loss in male patients is more than that in female patients. Male patients were fast progressive hearing loss, to the age of twenty, they have developed severe sensorineural hearing loss. Female patients hearing declined slowly, they present with sever hearing loss at 45-50years old. The hearing loss in those patients appears to affect from high and middle frequencies to all frequencies. The X-linked dominance pattern of inheritance was detected based on the absence of male-to-male transmission, early onset and a more severe phenotype in males than in females.

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