ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2539C>T (p.Gln847Ter)

gnomAD frequency: 0.00001  dbSNP: rs144546360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779159 SCV000915674 uncertain significance Congenital dyserythropoietic anemia, type I 2018-10-18 criteria provided, single submitter clinical testing The CDAN1 c.2539C>T (p.Gln847Ter) variant is a stop-gained variant that is predicted to result in an absent or truncated protein. This variant has been reported in a compound heterozygous state with a missense variant in one individual with congenital dyserythropoietic anemia (Tamary et al. 2005). The p.Gln847Ter variant was absent from 154 controls but is reported at a frequency of 0.001164 in the European American population of the Exome Sequencing Project. However, this frequency is based on one allele only in a region of good sequencing coverage, so the variant is presumed to be rare. Due to the potential impact of stop-gained variants and the supporting evidence, the p.Gln847Ter 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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