Table 1. Clinical interpretation of GJB2:p.Val84Met.
Source: [5]
1 In-house data indicate that seven affected segregations of the genotype with the phenotype.
2 Odds ratio based on our in-house data in which six heterozygotes were found among 2,201 patients with hearing loss, compared with gnomADv2.1.1 data, in which a heterozygote was found among 5,039 control Ashkenazi Jewish individuals, was 13.7 (95% confidence interval: 1.65–114, P = 0.01), which was more than 5%, and the 95% confidence interval did not contain 1.
3 REVEL score = 0.94.
HLEP: Hearing Loss Expert Panel; OMIM: Online Mendelian Inheritance in Man; REVEL: Rare exome variant ensemble learner.
This table was published under a Creative Commons License.
| Title | Content |
| Gene | GJB2 |
| Variant | NM_004004.5:c.250G>A (p.Val84Met) |
| Phenotype (OMIM) | Palmoplantar keratoderma with hearing loss (148350) |
| Mode of inheritance | Autosomal dominant |
| ClinGen HLEP Criteria | Pathogenic |
| Pathogenicity | PP1_Strong1, PS4_Strong2, PP33 |