Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000666340 | SCV000790616 | likely pathogenic | Pendred syndrome | 2017-04-03 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000666340 | SCV001163090 | likely pathogenic | Pendred syndrome | criteria provided, single submitter | clinical testing | ||
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000666340 | SCV002103488 | pathogenic | Pendred syndrome | 2022-02-21 | criteria provided, single submitter | clinical testing | Variant summary: SLC26A4 c.563T>C (p.Ile188Thr) results in a non-conservative amino acid change located in the SLC26A/SulP transporter domain (IPR011547) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251452 control chromosomes (gnomAD). c.563T>C has been reported in the literature in multiple individuals affected with enlargement of vestibular aqueduct and nonsyndromic hearing loss (e.g. Huang_2011, Zhao_2014, Zhang_2016). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV003472078 | SCV004201952 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2024-03-14 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005046859 | SCV005674167 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome | 2024-03-06 | criteria provided, single submitter | clinical testing |