ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) (rs769881615)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778277 SCV000914452 uncertain significance Imerslund-Gräsbeck syndrome 2018-12-04 criteria provided, single submitter clinical testing The CUBN c.4837C>T (p.Arg1613Ter) variant is a stop-gained variant that is predicted to cause premature truncation of the protein. The p.Arg1613Ter variant has not been reported in the literature in association with megaloblastic anemia. The variant is reported at a frequency of 0.000075 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for megaloblastic anemia 1, Finnish type. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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