Table 1.
Variants identified in families with non-syndromic hearing loss by HEar-Seq
| Family | HL phenotype, onset | Gene | Genomic coordinate (hg38), rs number (dbSNP) | cDNA position (RefSeq mRNA accession) | Effect | Allele frequency in hearing controls (chromosomes) | Allele frequency in unrelated deaf (chromosomes) | ACMG classification [4] |
|---|---|---|---|---|---|---|---|---|
| E1252 | Profound, congenital | MYO15A | chr17:18,155,225, rs878853228 | c.8340G>A (NM_016239.3) | Intron 46 retention | 0 (220) | 0 (194) | Pathogenic PS3 |
| DF179 | Profound, prelingual | LOXHD1 | chr18:46,485,121, rs878853231 | c.5894dupG (NM_144612.6) | p.(Gly1965fs) | 0 (264) | 0 (194) | Pathogenic PVS1 |
| DF185 | Profound, congenital | TBC1D24 | chr16:2,496,342, rs878853232 | c.194G>T (NM_001199107.1) | p.(Arg65Leu) | 0 (206) | 0 (194) | Pathogenic PP1 |
| DF198 | Moderate-severe, prelingual | OTOG | chr11:17,634,218, rs866476223 | c.7453C>T (NM_001277269.1) | p.(Arg2485Ter) | 0 (220) | 0.005 (194) | Pathogenic PVS1 |
| DF202 | Profound, congenital | SLC26A4 | chr7:107,695,984, rs111033308 | c.1489G>A (NM_000441.1) | p.(Gly497Ser) | 0 (194) | ||
| DF203 | Profound, congenital | MYO15A | chr17:18,158,644, none | c.9083+6T>A (NM_016239.3) | Skipping exon 52 | 0 (220) | 0 (194) | Pathogenic PS3 |