ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) (rs121908171)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622686 SCV000742468 pathogenic Inborn genetic diseases 2014-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Fulgent Genetics,Fulgent Genetics RCV000004853 SCV000894388 pathogenic Carpenter syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000407501 SCV000329720 pathogenic not provided 2018-07-11 criteria provided, single submitter clinical testing The L145X pathogenic variant in the RAB23 gene has been reported previously in the homozygous state in association with Carpenter syndrome (Jenkins et al., 2007). As stated above, this variant has also been observed in cis with R28X, consistent with an R28X;L145X complex allele (Jenkins et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The L145X variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret L145X as a pathogenic variant.
Invitae RCV000791402 SCV000637231 pathogenic Carpenter syndrome 2018-12-27 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. This variant is present in population databases (rs121908171, ExAC 0.04%). This variant has been reported in several individuals affected with Carpenter syndrome (PMID: 17503333, 24458945, 21412941). ClinVar contains an entry for this variant (Variation ID: 4591). Loss-of-function variants in RAB23 are known to be pathogenic (PMID: 21412941). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004853 SCV000025029 pathogenic Carpenter syndrome 1 2007-06-01 no assertion criteria provided literature only

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