Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761299 | SCV000891274 | likely pathogenic | Autosomal dominant nonsyndromic hearing loss 13 | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268065 | SCV001446690 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001268065 | SCV001777960 | pathogenic | not provided | 2023-06-02 | criteria provided, single submitter | clinical testing | Nonsense 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26969326, 25525159, 15372529, 33597575) |
Invitae | RCV001268065 | SCV002232300 | pathogenic | not provided | 2022-11-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Studies have shown that this premature translational stop signal results in skipping of exon 57, but is expected to preserve the integrity of the reading-frame (PMID: 15372529). ClinVar contains an entry for this variant (Variation ID: 17127). This variant is also known as Arg1272Stop or Arg893Stop. This premature translational stop signal has been observed in individual(s) with clinical features of non-ocular Stickler syndrome and deafness (PMID: 15372529, 26969326; Invitae). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1379*) in the COL11A2 gene. RNA analysis indicates that this premature translational stop signal induces altered splicing and likely results in a shortened protein product. |
Institute for Medical Genetics and Human Genetics, |
RCV000018665 | SCV002574943 | pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2022-09-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018665 | SCV000038948 | pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2004-10-01 | no assertion criteria provided | literature only |