ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.4879G>T (p.Glu1627Ter)

dbSNP: rs1597787868
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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 RCV000851574 SCV000986690 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2019-08-28 no assertion criteria provided research The patient with congenital NSHL carried the reported single nonsense variant as well as single frameshift variant in MYO15A. They were segregated with the disease in his family and patient was a sporadic case in it. NSHL carried by the patient was categorized as a type of severe and profound hearing loss based on audiogram.

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