ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs)

dbSNP: rs2140471687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780464 SCV002016976 pathogenic Anemia, congenital dyserythropoietic, type 1a 2020-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003708608 SCV004484933 pathogenic not provided 2022-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1322044). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu951Glyfs*52) in the CDAN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDAN1 are known to be pathogenic (PMID: 16098079, 16141353).

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