ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)

gnomAD frequency: 0.00005  dbSNP: rs80338699
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267935 SCV001446452 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001267935 SCV002573755 likely pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing PP3, PM2_moderate, PM3, PS4
Labcorp Genetics (formerly Invitae), Labcorp RCV001267935 SCV003443459 pathogenic not provided 2024-03-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1130 of the CDAN1 protein (p.Pro1130Leu). This variant is present in population databases (rs80338699, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of congenital dyserythropoietic anemia (PMID: 28102861, 29031773, 29676459, 29936674, 33401150). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 3177). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001839408 SCV003820617 pathogenic Anemia, congenital dyserythropoietic, type 1a 2021-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001839408 SCV005637825 pathogenic Anemia, congenital dyserythropoietic, type 1a 2024-02-05 criteria provided, single submitter clinical testing
OMIM RCV000020959 SCV000023485 pathogenic Congenital dyserythropoietic anemia, type I 2002-12-01 no assertion criteria provided literature only
GeneReviews RCV000020959 SCV000041584 not provided Congenital dyserythropoietic anemia, type I no assertion provided literature only
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001839408 SCV001190236 pathogenic Anemia, congenital dyserythropoietic, type 1a 2019-05-14 no assertion criteria provided clinical testing

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