ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.25G>A (p.Ala9Thr)

gnomAD frequency: 0.00013  dbSNP: rs150655349
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002529883 SCV000760385 uncertain significance Carpenter syndrome 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 9 of the RAB23 protein (p.Ala9Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs150655349, ExAC 0.05%). This missense change has been observed in individual(s) with clinical features of RAB23-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 532184). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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.
Natera, Inc. RCV000638833 SCV001453297 uncertain significance RAB23-related Carpenter syndrome 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742549 SCV005366102 uncertain significance RAB23-related disorder 2024-07-23 no assertion criteria provided clinical testing The RAB23 c.25G>A variant is predicted to result in the amino acid substitution p.Ala9Thr. This variant was reported with uncertain significance in an individual with single suture craniosynostosis (Clarke et al. 2018. PubMed ID: 29168297). This variant is reported in 0.036% 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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