Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003415655 | SCV004109317 | pathogenic | RAB23-related disorder | 2023-06-12 | criteria provided, single submitter | clinical testing | The RAB23 c.408dupT variant is predicted to result in premature protein termination (p.Glu137*). This variant was reported in the homozygous state in two apparently unrelated individual with carpenter syndrome (Jenkins et al 2007. PubMed ID: 17503333). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. Nonsense variants in RAB23 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Gene |
RCV004721242 | SCV005327164 | pathogenic | not provided | 2023-07-01 | 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: 17503333) |
Labcorp Genetics |
RCV005089169 | SCV005834550 | pathogenic | Carpenter syndrome | 2024-04-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu137*) in the RAB23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAB23 are known to be pathogenic (PMID: 17503333, 21412941). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Carpenter syndrome (PMID: 17503333). ClinVar contains an entry for this variant (Variation ID: 4592). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000004854 | SCV000025030 | pathogenic | RAB23-related Carpenter syndrome | 2007-06-01 | no assertion criteria provided | literature only |