ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) (rs1557977732)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics,Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine RCV000767381 SCV000854594 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2017-12-07 no assertion criteria provided clinical testing In YUHL41 family, ADNSHL had a characteristic of high frequency hearing loss. Affected individuals had symmetric down sloping hearing loss up to 60 dB HL and hearing functions at 250 and 500 Hz were well preserved in all cases. Onset age of hearing loss was early 30 and 10 years in II-2 and III-2, respectively. Interestingly, II-2 affected patient had a similar hearing threshold with III-2 even if II-2 had a longer hearing loss duration (about 20 vs. 10 years).

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