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Table 1 MYO15A variants identified in this study

From: Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Family Nucleotide change Amino acid change Domain GERP++ PhyloP In silico prediction MAF in ExAC MAF in KRGDB Classification of pathogenic variants Published reference (PMID)
SB246 c.5504G > A p.R1835H myosin motor 5.78 6.226 P D D 0.00002 ND PP1 This study
c.10245_10247delCTC p.S3417del FERM 1st:2.43,
NA D D 0.00003 ND PVS1 25,792,667,27,375,115, This study
SB224 c.9790C > T p.Q3264X FERM 5.61 4.314 NA NA D ND ND PVS1 This study
c.10263C > G p.I3421M FERM 2.74 1.404 P D D 0.00003 0.000804 PP1 23,967,202, This study
  1. Nomenclature is based on NCBI accession number NM_016239.3. Pathogenic variants are described in the context of the American College of Medical Genetics and Genomics (ACMG) 2015 guidelines [26]
  2. Bold font: novel pathogenic variant
  3. Conservation tools: GERP++ score in the UCSC Genome Browser (;PhyloP score from the Mutation Taster (, in silico prediction tools: PP2 Polyphen-2 (, S SIFT ( or SIFT-indels2 (; MT Mutation Taster, ExAC Exome Aggregation Consortium (, KRGDB Korean Reference Genome DB (, P predicted probably damaging;D, either disease causing or damaging, NA an abbreviation for not applicable, ND not detected