ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter) (rs1403456625)

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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 RCV000779340 SCV000915933 uncertain significance Congenital dyserythropoietic anemia, type II 2018-10-31 criteria provided, single submitter clinical testing The SEC23B c.1201C>T (p.Arg401Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. The p.Arg401Ter variant has been reported in at least two studies, in which it is found in a compound heterozygous state with a second missense variant in two related individuals with congenital dyserythropoietic anemia (Schwarz et al. 2009; Iolascon et al. 2010). Control data are unavailable for this variant, which is reported at a frequency of 0.000011 in the Total population of the Genome Aggregation Database. Expression studies showed <5% of wildtype expression for the variant protein in transient transfections. Based on the predicted truncating nature of the variant and the supporting evidence, the p.Arg401Ter variant is classified as a variant of unknown significance but suspicious for congenital dyserythropoietic anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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