ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.783-6T>C

gnomAD frequency: 0.00108  dbSNP: rs138540027
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420242 SCV000523270 uncertain significance not provided 2017-06-21 criteria provided, single submitter clinical testing The c.783-6 T>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.783-6 T>C variant is observed in 106/64806 (0.16%) alleles from individuals of European background, including 1 homozygous individual in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.783-6 T>C substitution occurs at a position that is conserved across species. In-silico splice prediction models are inconsistent in their predictions as to whether or not c.783-6 T>C results in abnormal gene splicing, and in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001087843 SCV000646848 benign Familial acute necrotizing encephalopathy 2023-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000420242 SCV004148960 benign not provided 2023-12-01 criteria provided, single submitter clinical testing RANBP2: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000420242 SCV001798957 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702774 SCV001931684 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000420242 SCV001967482 likely benign not provided no assertion criteria provided clinical testing

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