ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.2150del (p.Ala717fs) (rs1334741748)

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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 RCV000779342 SCV000915935 uncertain significance Congenital dyserythropoietic anemia, type II 2018-10-22 criteria provided, single submitter clinical testing The SEC23B c.2150delC (p.Ala717ValfsTer8) variant results in a frameshift, and is predicted to result in premature termination of the protein. The p.Ala717ValfsTer8 variant has been reported in a compound heterozygous state with a second missense variant in a patient with congenital dyserythropoietic anemia (Russo et al. 2010). The p.Ala717ValfsTer8 variant was absent from 120 controls (Russo et al. 2010) and it is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database. Due to the potential impact of frameshift variants, this variant is classified as a variant of unknown significance but suspicious for pathogenicity 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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