Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV002287843 | SCV002569101 | pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2018-01-10 | criteria provided, single submitter | case-control | The identified mutation leads to the substitution of Leucine 3475 with a stop codon (Y3475X) in the Myo15A protein. Hence, this substitution alters the amino acid sequence and leads to a premature stop codon at position 3475 with the complete loss of 56 out of 3530 amino acids in the wild type protein sequence leading to truncated protein. |