ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.408dup (p.Glu137Ter)

gnomAD frequency: 0.00001  dbSNP: rs1438138090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences 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.
GeneDx 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 (formerly Invitae), Labcorp 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

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