Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607732 | SCV000712586 | pathogenic | Rare genetic deafness | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001225372 | SCV001397652 | pathogenic | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu100Aspfs*28) in the CIB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CIB2 are known to be pathogenic (PMID: 26173970, 26226137, 26445815). This variant is present in population databases (rs765741202, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with autosomal recessive deafness (PMID: 29112224). ClinVar contains an entry for this variant (Variation ID: 505395). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001225372 | SCV001772215 | likely pathogenic | not provided | 2021-05-28 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29112224, 31589614) |
Fulgent Genetics, |
RCV002483678 | SCV002784406 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 48; Usher syndrome type 1J | 2021-08-06 | criteria provided, single submitter | clinical testing |