ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)

dbSNP: rs751619487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001363619 SCV001559739 uncertain significance Carpenter syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the RAB23 mRNA. It is expected to extend the length of the RAB23 protein by 69 additional amino acid residues. This variant is present in population databases (rs751619487, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with RAB23-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Human Genetics, University Hospital Muenster RCV002287498 SCV002577923 likely pathogenic See cases 2021-12-08 criteria provided, single submitter clinical testing ACMG categories: PS5,PM2,PM4,PP4
Natera, Inc. RCV001836364 SCV002083433 uncertain significance RAB23-related Carpenter syndrome 2017-06-26 no assertion criteria provided clinical testing

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