Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Division of Hearing and Balance Research, |
RCV000005092 | SCV000611811 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2017-07-01 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005406724 | SCV006070926 | pathogenic | Pendred syndrome | 2025-03-27 | criteria provided, single submitter | clinical testing | Variant summary: SLC26A4 c.1115C>T (p.Ala372Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251240 control chromosomes (gnomAD). c.1115C>T has been reported in the literature in individuals affected with Pendred Syndrome or with nonsyndromic hearing loss with EVA (e.g. Usami_1999, Tsukamoto_2003). These data indicate that the variant is likely to be associated with disease. Publications report experimental evidence evaluating an impact on protein function, finding that the variant results in cytoplasmic accumulation and a severe reduction in anion transport activity (Ishihara_2010, Wasano_2020). The following publications have been ascertained in the context of this evaluation (PMID: 10190331, 20826203, 14508505, 31599023). ClinVar contains an entry for this variant (Variation ID: 4823). Based on the evidence outlined above, the variant was classified as pathogenic. |
| OMIM | RCV000005092 | SCV000025268 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 1999-02-01 | no assertion criteria provided | literature only | |
| National Institute of Sensory Organs, |
RCV000005092 | SCV000994881 | affects | Autosomal recessive nonsyndromic hearing loss 4 | 2019-08-20 | no assertion criteria provided | clinical testing | in vitro experiment |