Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265701 | SCV002548296 | uncertain significance | not specified | 2022-05-12 | criteria provided, single submitter | clinical testing | Variant summary: GJB2 c.400T>C (p.Trp134Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250738 control chromosomes. c.400T>C has been reported in the literature in at least one individual affected with Non-Syndromic Hearing Loss. These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic. |
| Fulgent Genetics, |
RCV002494615 | SCV002782175 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher | 2021-12-11 | criteria provided, single submitter | clinical testing | |
| Laboratory of Prof. |
RCV000225073 | SCV000282011 | pathogenic | Autosomal recessive nonsyndromic hearing loss 12 | 2016-02-19 | no assertion criteria provided | research | Congenital, profound HL |