ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, Department of Biology, Semnan University RCV002281637 SCV002569102 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2017-01-21 criteria provided, single submitter case-control The identified mutation leads to the substitution of Tryptophan 1158 with a stop codon (W1158X) in the Myo15A protein. Hence, this substitution alters the amino acid sequence and leads to a premature stop codon at position 3474 with the complete loss of 2372 out of 3530 amino acids in the wild type protein sequence leading to truncated protein.

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