ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.594T>G (p.Gly198=)

gnomAD frequency: 0.00009  dbSNP: rs151203723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001421260 SCV001623783 likely benign Carpenter syndrome 2024-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743475 SCV005353297 uncertain significance RAB23-related disorder 2024-08-20 no assertion criteria provided clinical testing The RAB23 c.594T>G variant is not predicted to result in an amino acid change (p.=). This variant is predicted to alter splicing based on available splicing prediction software (SpliceAI, Jaganathan et al. 2019. PubMed ID: 30661751). However, the use of computer prediction softwares is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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