ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.82del (p.Arg28fs)

dbSNP: rs2128004184
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382455 SCV001581229 pathogenic Carpenter syndrome 2020-03-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg28Aspfs*33) in the RAB23 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RAB23 are known to be pathogenic (PMID: 17503333, 21412941). This variant has not been reported in the literature in individuals with RAB23-related conditions. This variant is not present in population databases (ExAC no frequency).

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