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: 2
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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.
OMIM RCV000004854 SCV000025030 pathogenic RAB23-related Carpenter syndrome 2007-06-01 no assertion criteria provided literature only

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