ClinVar Miner

Submissions for variant NM_032985.6(SEC23B):c.1489C>T (p.Arg497Cys) (rs727504145)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153928 SCV000203545 pathogenic not provided 2014-01-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000779341 SCV000915934 pathogenic Congenital dyserythropoietic anemia, type II 2018-10-31 criteria provided, single submitter clinical testing The SEC23B c.1489C>T (p.Arg497Cys) variant has been reported in five studies and in a total of nine individuals with dyserythropoietic anemia including one individual in a homozygous state and eight individuals in a compound heterozygous state (Schwarz et al. 2009, Bianchi et al. 2009, Iolascon et al. 2010, Russo et al. 2010, Russo et al. 2013). The variant was absent from 407 controls and is reported at a frequency of 0.000032 in the European (non-Finnish) population of the Genome Aggregation Database. The Arg497 amino acid residue is conserved among several species. Based on the evidence, the p.Arg497Cys variant is classified as pathogenic 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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