ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)

gnomAD frequency: 0.00037  dbSNP: rs121908171
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000407501 SCV000329720 pathogenic not provided 2022-09-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 23599695, 21412941, 24458945, 30487145, 25168863, 20358613, 31980526, 31589614, 17503333)
Invitae RCV000791402 SCV000637231 pathogenic Carpenter syndrome 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu145*) in the RAB23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAB23 are known to be pathogenic (PMID: 17503333, 21412941). This variant is present in population databases (rs121908171, gnomAD 0.06%). This premature translational stop signal has been observed in individuals with Carpenter syndrome (PMID: 17503333, 21412941, 24458945). ClinVar contains an entry for this variant (Variation ID: 4591). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000622686 SCV000742468 pathogenic Inborn genetic diseases 2014-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000004853 SCV000894388 pathogenic RAB23-related Carpenter syndrome 2021-12-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000004853 SCV001520199 pathogenic RAB23-related Carpenter syndrome 2020-11-06 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000004853 SCV002019591 pathogenic RAB23-related Carpenter syndrome 2022-11-23 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000004853 SCV002761661 pathogenic RAB23-related Carpenter syndrome 2022-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003415654 SCV004108343 pathogenic RAB23-related disorder 2023-12-31 criteria provided, single submitter clinical testing The RAB23 c.434T>A variant is predicted to result in premature protein termination (p.Leu145*). This variant has been reported in the homozygous or compound heterozygous state in multiple individuals with Carpenter syndrome (Jenkins et al. 2007. PubMed ID: 17503333; Jenkins et al. 2011. PubMed ID: 21412941; Salem et al. 2013. PubMed ID: 23599695). This variant is reported in 0.057% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in RAB23 are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000004853 SCV000025029 pathogenic RAB23-related Carpenter syndrome 2007-06-01 no assertion criteria provided literature only
Natera, Inc. RCV000004853 SCV001453295 pathogenic RAB23-related Carpenter syndrome 2020-09-16 no assertion criteria provided clinical testing

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