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

Table 1 MYO15A variants identified in this study

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)
Family	Nucleotide change	Amino acid change	Domain	GERP++	PhyloP	PP2	S	MT	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
SB246	c.10245_10247delCTC	p.S3417del	FERM	1st:2.43, 2nd:5.81, 3rd:5.81	1st:0.852, 2nd:5.08, 3rd:6.153	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
SB224	c.10263C > G	p.I3421M	FERM	2.74	1.404	P	D	D	0.00003	0.000804	PP1	23,967,202, This study

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]
Bold font: novel pathogenic variant
Conservation tools: GERP++ score in the UCSC Genome Browser (http://genome-asia.ucsc.edu/);PhyloP score from the Mutation Taster (http://www.mutationtaster.org/), in silico prediction tools: PP2 Polyphen-2 (http://genetics.bwh.harvard.edu/pph2/index.shtml), S SIFT (http://sift.jcvi.org/www/SIFT_chr_coords_submit.html) or SIFT-indels2 (http://sift.bii.a-star.edu.sg/www/SIFT_indels2.html); MT Mutation Taster, ExAC Exome Aggregation Consortium (http://exac.broadinstitute.org/), KRGDB Korean Reference Genome DB (http://152.99.75.168/KRGDB/menuPages/firstInfo.jsp), P predicted probably damaging;D, either disease causing or damaging, NA an abbreviation for not applicable, ND not detected

ISSN: 1471-2350